Canonical Allele Identifier: CA2686315180

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061486-A-ACCGGAAGAGGTGACACTATGTAACCAGTCAGGAC

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061497_18061530dup , CM000670.2:g.18061497_18061530dup	GRCh38
NC_000008.10:g.17919006_17919039dup , CM000670.1:g.17919006_17919039dup	GRCh37
NC_000008.9:g.17963286_17963319dup	NCBI36
NG_008985.1:g.28479_28512dup
NG_008985.2:g.28479_28512dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.752-62_752-29dup	ENSP00000371152.4:n.752-62_752-29dup
ENST00000517409.2:n.672-62_672-29dup
ENST00000518746.2:n.2328_2361dup
ENST00000519545.6:n.721-62_721-29dup
ENST00000520781.6:c.629-62_629-29dup	ENSP00000427751.1:n.629-62_629-29dup
ENST00000521542.2:n.12-62_12-29dup
ENST00000635756.1:c.126-71_126-38dup
ENST00000635944.1:c.*540-62_*540-29dup	ENSP00000490195.1:n.*540-62_*540-29dup
ENST00000635998.1:c.704-62_704-29dup	ENSP00000490506.1:n.704-62_704-29dup
ENST00000636009.1:c.561-62_561-29dup	ENSP00000489988.1:n.561-62_561-29dup
ENST00000636033.1:c.*540-62_*540-29dup	ENSP00000489617.1:n.*540-62_*540-29dup
ENST00000636050.1:c.*547-62_*547-29dup	ENSP00000490562.1:n.*547-62_*547-29dup
ENST00000636128.1:c.383-62_383-29dup	ENSP00000489789.1:n.383-62_383-29dup
ENST00000636160.1:c.*596-62_*596-29dup	ENSP00000489651.1:n.*596-62_*596-29dup
ENST00000636171.1:c.647-62_647-29dup	ENSP00000489761.1:n.647-62_647-29dup
ENST00000636455.1:c.752-62_752-29dup	ENSP00000490502.1:n.752-62_752-29dup
ENST00000636494.1:c.*484-62_*484-29dup	ENSP00000490388.1:n.*484-62_*484-29dup
ENST00000636563.1:n.366-62_366-29dup
ENST00000636577.1:c.644-62_644-29dup	ENSP00000490027.1:n.644-62_644-29dup
ENST00000636691.1:c.509-62_509-29dup	ENSP00000490725.1:n.509-62_509-29dup
ENST00000636701.1:c.*355-62_*355-29dup	ENSP00000489800.1:n.*355-62_*355-29dup
ENST00000636815.1:c.621-62_621-29dup
ENST00000636920.1:c.*540-62_*540-29dup	ENSP00000490437.1:n.*540-62_*540-29dup
ENST00000636997.1:c.617-62_617-29dup	ENSP00000490093.1:n.617-62_617-29dup
ENST00000637013.1:c.*1072-62_*1072-29dup	ENSP00000490596.1:n.*1072-62_*1072-29dup
ENST00000637014.1:n.1111-62_1111-29dup
ENST00000637095.1:c.*484-62_*484-29dup	ENSP00000490415.1:n.*484-62_*484-29dup
ENST00000637244.1:c.*1222-62_*1222-29dup	ENSP00000490188.1:n.*1222-62_*1222-29dup
ENST00000637343.1:n.2141-62_2141-29dup
ENST00000637429.1:c.*916-62_*916-29dup	ENSP00000490522.1:n.*916-62_*916-29dup
ENST00000637484.1:c.*666-62_*666-29dup	ENSP00000490837.1:n.*666-62_*666-29dup
ENST00000637528.1:c.641-62_641-29dup	ENSP00000490801.1:n.641-62_641-29dup
ENST00000637609.1:n.3425-62_3425-29dup
ENST00000637636.1:c.698-62_698-29dup	ENSP00000490112.1:n.698-62_698-29dup
ENST00000637790.2:c.704-62_704-29dup MANE Select	ENSP00000490272.1:n.704-62_704-29dup
ENST00000637857.1:n.1008_1041dup
ENST00000637922.1:c.509-62_509-29dup	ENSP00000490071.1:n.509-62_509-29dup
ENST00000637991.1:c.677-62_677-29dup	ENSP00000489901.1:n.677-62_677-29dup
ENST00000638028.1:n.921-62_921-29dup
ENST00000638069.1:n.1463_1496dup
ENST00000262097.10:c.704-62_704-29dup	ENSP00000262097.6:n.704-62_704-29dup
ENST00000314146.10:c.686-62_686-29dup	ENSP00000326970.10:n.686-62_686-29dup
ENST00000381733.8:c.752-62_752-29dup	ENSP00000371152.4:n.752-62_752-29dup
ENST00000518746.1:n.521-62_521-29dup
ENST00000519468.5:n.533-62_533-29dup
ENST00000520781.5:c.629-62_629-29dup	ENSP00000427751.1:n.629-62_629-29dup
ENST00000521542.1:n.355_388dup
NM_001127505.1:c.686-62_686-29dup	NP_001120977.1:n.686-62_686-29dup
NM_001127505.2:c.686-62_686-29dup	NP_001120977.1:n.686-62_686-29dup
NM_004315.4:c.752-62_752-29dup	NP_004306.3:n.752-62_752-29dup
NM_004315.5:c.752-62_752-29dup	NP_004306.3:n.752-62_752-29dup
NM_177924.3:c.704-62_704-29dup	NP_808592.2:n.704-62_704-29dup
NM_177924.4:c.704-62_704-29dup	NP_808592.2:n.704-62_704-29dup
XM_005273504.2:c.638-62_638-29dup	XP_005273561.1:n.638-62_638-29dup
NM_001363743.1:c.509-62_509-29dup	NP_001350672.1:n.509-62_509-29dup
XM_005273504.3:c.638-62_638-29dup	XP_005273561.1:n.638-62_638-29dup
NM_177924.5:c.704-62_704-29dup MANE Select	NP_808592.2:n.704-62_704-29dup
NM_001127505.3:c.686-62_686-29dup	NP_001120977.1:n.686-62_686-29dup
NM_001363743.2:c.509-62_509-29dup	NP_001350672.1:n.509-62_509-29dup
NM_004315.6:c.752-62_752-29dup	NP_004306.3:n.752-62_752-29dup