Canonical Allele Identifier: CA370429433

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061434-T-C
• MyVariant Identifiers: chr8:g.17918943T>C (hg19) ; chr8:g.18061434T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061434T>C , CM000670.2:g.18061434T>C	GRCh38
NC_000008.10:g.17918943T>C , CM000670.1:g.17918943T>C	GRCh37
NC_000008.9:g.17963223T>C	NCBI36
NG_008985.1:g.28565A>G
NG_008985.2:g.28565A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.776A>G	ENSP00000371152.4:p.Lys259Arg
ENST00000517409.2:n.696A>G
ENST00000518746.2:n.2414A>G
ENST00000519545.6:n.745A>G
ENST00000520781.6:c.653A>G	ENSP00000427751.1:p.Lys218Arg
ENST00000521542.2:n.36A>G
ENST00000635756.1:c.141A>G
ENST00000635944.1:c.*564A>G	ENSP00000490195.1:n.*564A>G
ENST00000635998.1:c.728A>G	ENSP00000490506.1:p.Lys243Arg
ENST00000636009.1:c.585A>G	ENSP00000489988.1:n.585A>G
ENST00000636033.1:c.*564A>G	ENSP00000489617.1:n.*564A>G
ENST00000636050.1:c.*571A>G	ENSP00000490562.1:n.*571A>G
ENST00000636128.1:c.407A>G	ENSP00000489789.1:p.Lys136Arg
ENST00000636160.1:c.*620A>G	ENSP00000489651.1:n.*620A>G
ENST00000636171.1:c.671A>G	ENSP00000489761.1:p.Lys224Arg
ENST00000636455.1:c.776A>G	ENSP00000490502.1:p.Lys259Arg
ENST00000636494.1:c.*508A>G	ENSP00000490388.1:n.*508A>G
ENST00000636563.1:n.390A>G
ENST00000636577.1:c.668A>G	ENSP00000490027.1:p.Lys223Arg
ENST00000636691.1:c.533A>G	ENSP00000490725.1:p.Lys178Arg
ENST00000636701.1:c.*379A>G	ENSP00000489800.1:n.*379A>G
ENST00000636815.1:c.645A>G
ENST00000636920.1:c.*564A>G	ENSP00000490437.1:n.*564A>G
ENST00000636997.1:c.641A>G	ENSP00000490093.1:p.Lys214Arg
ENST00000637013.1:c.*1096A>G	ENSP00000490596.1:n.*1096A>G
ENST00000637014.1:n.1135A>G
ENST00000637095.1:c.*508A>G	ENSP00000490415.1:n.*508A>G
ENST00000637244.1:c.*1246A>G	ENSP00000490188.1:n.*1246A>G
ENST00000637343.1:n.2165A>G
ENST00000637429.1:c.*940A>G	ENSP00000490522.1:n.*940A>G
ENST00000637484.1:c.*690A>G	ENSP00000490837.1:n.*690A>G
ENST00000637528.1:c.665A>G	ENSP00000490801.1:p.Lys222Arg
ENST00000637609.1:n.3449A>G
ENST00000637636.1:c.722A>G	ENSP00000490112.1:p.Lys241Arg
ENST00000637790.2:c.728A>G MANE Select	ENSP00000490272.1:p.Lys243Arg
ENST00000637857.1:n.1094A>G
ENST00000637922.1:c.533A>G	ENSP00000490071.1:p.Lys178Arg
ENST00000637991.1:c.701A>G	ENSP00000489901.1:p.Lys234Arg
ENST00000638028.1:n.945A>G
ENST00000638069.1:n.1549A>G
ENST00000262097.10:c.728A>G	ENSP00000262097.6:p.Lys243Arg
ENST00000314146.10:c.710A>G	ENSP00000326970.10:p.Lys237Arg
ENST00000381733.8:c.776A>G	ENSP00000371152.4:p.Lys259Arg
ENST00000518746.1:n.545A>G
ENST00000519468.5:n.557A>G
ENST00000520781.5:c.653A>G	ENSP00000427751.1:p.Lys218Arg
ENST00000521542.1:n.441A>G
NM_001127505.1:c.710A>G	NP_001120977.1:p.Lys237Arg
NM_001127505.2:c.710A>G	NP_001120977.1:p.Lys237Arg
NM_004315.4:c.776A>G	NP_004306.3:p.Lys259Arg
NM_004315.5:c.776A>G	NP_004306.3:p.Lys259Arg
NM_177924.3:c.728A>G	NP_808592.2:p.Lys243Arg
NM_177924.4:c.728A>G	NP_808592.2:p.Lys243Arg
XM_005273504.2:c.662A>G	XP_005273561.1:p.Lys221Arg
NM_001363743.1:c.533A>G	NP_001350672.1:p.Lys178Arg
XM_005273504.3:c.662A>G	XP_005273561.1:p.Lys221Arg
NM_177924.5:c.728A>G MANE Select	NP_808592.2:p.Lys243Arg
NM_001127505.3:c.710A>G	NP_001120977.1:p.Lys237Arg
NM_001363743.2:c.533A>G	NP_001350672.1:p.Lys178Arg
NM_004315.6:c.776A>G	NP_004306.3:p.Lys259Arg