Canonical Allele Identifier: CA2686312964

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18059325-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059325G>A , CM000670.2:g.18059325G>A	GRCh38
NC_000008.10:g.17916834G>A , CM000670.1:g.17916834G>A	GRCh37
NC_000008.9:g.17961114G>A	NCBI36
NG_008985.1:g.30674C>T
NG_008985.2:g.30674C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.1089+16C>T	ENSP00000371152.4:n.1089+16C>T
ENST00000518746.2:n.2727+16C>T
ENST00000520781.6:c.966+16C>T	ENSP00000427751.1:n.966+16C>T
ENST00000635756.1:c.454+16C>T
ENST00000635944.1:c.*877+16C>T	ENSP00000490195.1:n.*877+16C>T
ENST00000635998.1:c.1041+16C>T	ENSP00000490506.1:n.1041+16C>T
ENST00000636009.1:c.898+16C>T	ENSP00000489988.1:n.898+16C>T
ENST00000636033.1:c.*877+16C>T	ENSP00000489617.1:n.*877+16C>T
ENST00000636050.1:c.*884+16C>T	ENSP00000490562.1:n.*884+16C>T
ENST00000636128.1:c.720+16C>T	ENSP00000489789.1:n.720+16C>T
ENST00000636160.1:c.*933+16C>T	ENSP00000489651.1:n.*933+16C>T
ENST00000636171.1:c.984+16C>T	ENSP00000489761.1:n.984+16C>T
ENST00000636455.1:c.965+247C>T	ENSP00000490502.1:n.965+247C>T
ENST00000636494.1:c.*821+16C>T	ENSP00000490388.1:n.*821+16C>T
ENST00000636563.1:n.703+16C>T
ENST00000636577.1:c.981+16C>T	ENSP00000490027.1:n.981+16C>T
ENST00000636691.1:c.846+16C>T	ENSP00000490725.1:n.846+16C>T
ENST00000636701.1:c.*692+16C>T	ENSP00000489800.1:n.*692+16C>T
ENST00000636815.1:c.958+16C>T
ENST00000636920.1:c.*877+16C>T	ENSP00000490437.1:n.*877+16C>T
ENST00000636997.1:c.954+16C>T	ENSP00000490093.1:n.954+16C>T
ENST00000637013.1:c.*1409+16C>T	ENSP00000490596.1:n.*1409+16C>T
ENST00000637014.1:n.1448+16C>T
ENST00000637095.1:c.*821+16C>T	ENSP00000490415.1:n.*821+16C>T
ENST00000637244.1:c.*1559+16C>T	ENSP00000490188.1:n.*1559+16C>T
ENST00000637343.1:n.2478+16C>T
ENST00000637429.1:c.*1253+16C>T	ENSP00000490522.1:n.*1253+16C>T
ENST00000637484.1:c.*1003+16C>T	ENSP00000490837.1:n.*1003+16C>T
ENST00000637528.1:c.978+16C>T	ENSP00000490801.1:n.978+16C>T
ENST00000637609.1:n.3762+16C>T
ENST00000637636.1:c.1035+16C>T	ENSP00000490112.1:n.1035+16C>T
ENST00000637790.2:c.1041+16C>T MANE Select	ENSP00000490272.1:n.1041+16C>T
ENST00000637857.1:n.1407+16C>T
ENST00000637922.1:c.846+16C>T	ENSP00000490071.1:n.846+16C>T
ENST00000637991.1:c.1014+16C>T	ENSP00000489901.1:n.1014+16C>T
ENST00000638028.1:n.1258+16C>T
ENST00000638069.1:n.1862+16C>T
ENST00000262097.10:c.1041+16C>T	ENSP00000262097.6:n.1041+16C>T
ENST00000314146.10:c.1023+16C>T	ENSP00000326970.10:n.1023+16C>T
ENST00000381733.8:c.1089+16C>T	ENSP00000371152.4:n.1089+16C>T
ENST00000520781.5:c.966+16C>T	ENSP00000427751.1:n.966+16C>T
NM_001127505.1:c.1023+16C>T	NP_001120977.1:n.1023+16C>T
NM_001127505.2:c.1023+16C>T	NP_001120977.1:n.1023+16C>T
NM_004315.4:c.1089+16C>T	NP_004306.3:n.1089+16C>T
NM_004315.5:c.1089+16C>T	NP_004306.3:n.1089+16C>T
NM_177924.3:c.1041+16C>T	NP_808592.2:n.1041+16C>T
NM_177924.4:c.1041+16C>T	NP_808592.2:n.1041+16C>T
XM_005273504.2:c.975+16C>T	XP_005273561.1:n.975+16C>T
NM_001363743.1:c.846+16C>T	NP_001350672.1:n.846+16C>T
XM_005273504.3:c.975+16C>T	XP_005273561.1:n.975+16C>T
NM_177924.5:c.1041+16C>T MANE Select	NP_808592.2:n.1041+16C>T
NM_001127505.3:c.1023+16C>T	NP_001120977.1:n.1023+16C>T
NM_001363743.2:c.846+16C>T	NP_001350672.1:n.846+16C>T
NM_004315.6:c.1089+16C>T	NP_004306.3:n.1089+16C>T