Canonical Allele Identifier: CA2579103509

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061506G>A , CM000670.2:g.18061506G>A	GRCh38
NC_000008.10:g.17919015G>A , CM000670.1:g.17919015G>A	GRCh37
NC_000008.9:g.17963295G>A	NCBI36
NG_008985.1:g.28493C>T
NG_008985.2:g.28493C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.752-48C>T	ENSP00000371152.4:n.752-48C>T
ENST00000517409.2:n.672-48C>T
ENST00000518746.2:n.2342C>T
ENST00000519545.6:n.721-48C>T
ENST00000520781.6:c.629-48C>T	ENSP00000427751.1:n.629-48C>T
ENST00000521542.2:n.12-48C>T
ENST00000635756.1:c.126-57C>T
ENST00000635944.1:c.*540-48C>T	ENSP00000490195.1:n.*540-48C>T
ENST00000635998.1:c.704-48C>T	ENSP00000490506.1:n.704-48C>T
ENST00000636009.1:c.561-48C>T	ENSP00000489988.1:n.561-48C>T
ENST00000636033.1:c.*540-48C>T	ENSP00000489617.1:n.*540-48C>T
ENST00000636050.1:c.*547-48C>T	ENSP00000490562.1:n.*547-48C>T
ENST00000636128.1:c.383-48C>T	ENSP00000489789.1:n.383-48C>T
ENST00000636160.1:c.*596-48C>T	ENSP00000489651.1:n.*596-48C>T
ENST00000636171.1:c.647-48C>T	ENSP00000489761.1:n.647-48C>T
ENST00000636455.1:c.752-48C>T	ENSP00000490502.1:n.752-48C>T
ENST00000636494.1:c.*484-48C>T	ENSP00000490388.1:n.*484-48C>T
ENST00000636563.1:n.366-48C>T
ENST00000636577.1:c.644-48C>T	ENSP00000490027.1:n.644-48C>T
ENST00000636691.1:c.509-48C>T	ENSP00000490725.1:n.509-48C>T
ENST00000636701.1:c.*355-48C>T	ENSP00000489800.1:n.*355-48C>T
ENST00000636815.1:c.621-48C>T
ENST00000636920.1:c.*540-48C>T	ENSP00000490437.1:n.*540-48C>T
ENST00000636997.1:c.617-48C>T	ENSP00000490093.1:n.617-48C>T
ENST00000637013.1:c.*1072-48C>T	ENSP00000490596.1:n.*1072-48C>T
ENST00000637014.1:n.1111-48C>T
ENST00000637095.1:c.*484-48C>T	ENSP00000490415.1:n.*484-48C>T
ENST00000637244.1:c.*1222-48C>T	ENSP00000490188.1:n.*1222-48C>T
ENST00000637343.1:n.2141-48C>T
ENST00000637429.1:c.*916-48C>T	ENSP00000490522.1:n.*916-48C>T
ENST00000637484.1:c.*666-48C>T	ENSP00000490837.1:n.*666-48C>T
ENST00000637528.1:c.641-48C>T	ENSP00000490801.1:n.641-48C>T
ENST00000637609.1:n.3425-48C>T
ENST00000637636.1:c.698-48C>T	ENSP00000490112.1:n.698-48C>T
ENST00000637790.2:c.704-48C>T MANE Select	ENSP00000490272.1:n.704-48C>T
ENST00000637857.1:n.1022C>T
ENST00000637922.1:c.509-48C>T	ENSP00000490071.1:n.509-48C>T
ENST00000637991.1:c.677-48C>T	ENSP00000489901.1:n.677-48C>T
ENST00000638028.1:n.921-48C>T
ENST00000638069.1:n.1477C>T
ENST00000262097.10:c.704-48C>T	ENSP00000262097.6:n.704-48C>T
ENST00000314146.10:c.686-48C>T	ENSP00000326970.10:n.686-48C>T
ENST00000381733.8:c.752-48C>T	ENSP00000371152.4:n.752-48C>T
ENST00000518746.1:n.521-48C>T
ENST00000519468.5:n.533-48C>T
ENST00000520781.5:c.629-48C>T	ENSP00000427751.1:n.629-48C>T
ENST00000521542.1:n.369C>T
NM_001127505.1:c.686-48C>T	NP_001120977.1:n.686-48C>T
NM_001127505.2:c.686-48C>T	NP_001120977.1:n.686-48C>T
NM_004315.4:c.752-48C>T	NP_004306.3:n.752-48C>T
NM_004315.5:c.752-48C>T	NP_004306.3:n.752-48C>T
NM_177924.3:c.704-48C>T	NP_808592.2:n.704-48C>T
NM_177924.4:c.704-48C>T	NP_808592.2:n.704-48C>T
XM_005273504.2:c.638-48C>T	XP_005273561.1:n.638-48C>T
NM_001363743.1:c.509-48C>T	NP_001350672.1:n.509-48C>T
XM_005273504.3:c.638-48C>T	XP_005273561.1:n.638-48C>T
NM_177924.5:c.704-48C>T MANE Select	NP_808592.2:n.704-48C>T
NM_001127505.3:c.686-48C>T	NP_001120977.1:n.686-48C>T
NM_001363743.2:c.509-48C>T	NP_001350672.1:n.509-48C>T
NM_004315.6:c.752-48C>T	NP_004306.3:n.752-48C>T