Canonical Allele Identifier: CA459662197

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918912A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061403A>T , CM000670.2:g.18061403A>T	GRCh38
NC_000008.10:g.17918912A>T , CM000670.1:g.17918912A>T	GRCh37
NC_000008.9:g.17963192A>T	NCBI36
NG_008985.1:g.28596T>A
NG_008985.2:g.28596T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.807T>A	ENSP00000371152.4:p.Thr269=
ENST00000517409.2:n.727T>A
ENST00000518746.2:n.2445T>A
ENST00000520781.6:c.684T>A	ENSP00000427751.1:p.Thr228=
ENST00000521542.2:n.67T>A
ENST00000635756.1:c.172T>A
ENST00000635944.1:c.*595T>A	ENSP00000490195.1:n.*595T>A
ENST00000635998.1:c.759T>A	ENSP00000490506.1:p.Thr253=
ENST00000636009.1:c.616T>A	ENSP00000489988.1:n.616T>A
ENST00000636033.1:c.*595T>A	ENSP00000489617.1:n.*595T>A
ENST00000636050.1:c.*602T>A	ENSP00000490562.1:n.*602T>A
ENST00000636128.1:c.438T>A	ENSP00000489789.1:p.Thr146=
ENST00000636160.1:c.*651T>A	ENSP00000489651.1:n.*651T>A
ENST00000636171.1:c.702T>A	ENSP00000489761.1:p.Thr234=
ENST00000636455.1:c.807T>A	ENSP00000490502.1:p.Thr269=
ENST00000636494.1:c.*539T>A	ENSP00000490388.1:n.*539T>A
ENST00000636563.1:n.421T>A
ENST00000636577.1:c.699T>A	ENSP00000490027.1:p.Thr233=
ENST00000636691.1:c.564T>A	ENSP00000490725.1:p.Thr188=
ENST00000636701.1:c.*410T>A	ENSP00000489800.1:n.*410T>A
ENST00000636815.1:c.676T>A
ENST00000636920.1:c.*595T>A	ENSP00000490437.1:n.*595T>A
ENST00000636997.1:c.672T>A	ENSP00000490093.1:p.Thr224=
ENST00000637013.1:c.*1127T>A	ENSP00000490596.1:n.*1127T>A
ENST00000637014.1:n.1166T>A
ENST00000637095.1:c.*539T>A	ENSP00000490415.1:n.*539T>A
ENST00000637244.1:c.*1277T>A	ENSP00000490188.1:n.*1277T>A
ENST00000637343.1:n.2196T>A
ENST00000637429.1:c.*971T>A	ENSP00000490522.1:n.*971T>A
ENST00000637484.1:c.*721T>A	ENSP00000490837.1:n.*721T>A
ENST00000637528.1:c.696T>A	ENSP00000490801.1:p.Thr232=
ENST00000637609.1:n.3480T>A
ENST00000637636.1:c.753T>A	ENSP00000490112.1:p.Thr251=
ENST00000637790.2:c.759T>A MANE Select	ENSP00000490272.1:p.Thr253=
ENST00000637857.1:n.1125T>A
ENST00000637922.1:c.564T>A	ENSP00000490071.1:p.Thr188=
ENST00000637991.1:c.732T>A	ENSP00000489901.1:p.Thr244=
ENST00000638028.1:n.976T>A
ENST00000638069.1:n.1580T>A
ENST00000262097.10:c.759T>A	ENSP00000262097.6:p.Thr253=
ENST00000314146.10:c.741T>A	ENSP00000326970.10:p.Thr247=
ENST00000381733.8:c.807T>A	ENSP00000371152.4:p.Thr269=
ENST00000518746.1:n.576T>A
ENST00000519468.5:n.588T>A
ENST00000520781.5:c.684T>A	ENSP00000427751.1:p.Thr228=
ENST00000521542.1:n.472T>A
NM_001127505.1:c.741T>A	NP_001120977.1:p.Thr247=
NM_001127505.2:c.741T>A	NP_001120977.1:p.Thr247=
NM_004315.4:c.807T>A	NP_004306.3:p.Thr269=
NM_004315.5:c.807T>A	NP_004306.3:p.Thr269=
NM_177924.3:c.759T>A	NP_808592.2:p.Thr253=
NM_177924.4:c.759T>A	NP_808592.2:p.Thr253=
XM_005273504.2:c.693T>A	XP_005273561.1:p.Thr231=
NM_001363743.1:c.564T>A	NP_001350672.1:p.Thr188=
XM_005273504.3:c.693T>A	XP_005273561.1:p.Thr231=
NM_177924.5:c.759T>A MANE Select	NP_808592.2:p.Thr253=
NM_001127505.3:c.741T>A	NP_001120977.1:p.Thr247=
NM_001363743.2:c.564T>A	NP_001350672.1:p.Thr188=
NM_004315.6:c.807T>A	NP_004306.3:p.Thr269=