Canonical Allele Identifier: CA1768019924

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061404G= , CM000670.2:g.18061404G=	GRCh38
NC_000008.10:g.17918913G= , CM000670.1:g.17918913G=	GRCh37
NC_000008.9:g.17963193G=	NCBI36
NG_008985.1:g.28595C=
NG_008985.2:g.28595C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.806C=	ENSP00000371152.4:p.Thr269=
ENST00000517409.2:n.726C=
ENST00000518746.2:n.2444C=
ENST00000520781.6:c.683C=	ENSP00000427751.1:p.Thr228=
ENST00000521542.2:n.66C=
ENST00000635756.1:c.171C=
ENST00000635944.1:c.*594C=	ENSP00000490195.1:n.*594C=
ENST00000635998.1:c.758C=	ENSP00000490506.1:p.Thr253=
ENST00000636009.1:c.615C=	ENSP00000489988.1:n.615C=
ENST00000636033.1:c.*594C=	ENSP00000489617.1:n.*594C=
ENST00000636050.1:c.*601C=	ENSP00000490562.1:n.*601C=
ENST00000636128.1:c.437C=	ENSP00000489789.1:p.Thr146=
ENST00000636160.1:c.*650C=	ENSP00000489651.1:n.*650C=
ENST00000636171.1:c.701C=	ENSP00000489761.1:p.Thr234=
ENST00000636455.1:c.806C=	ENSP00000490502.1:p.Thr269=
ENST00000636494.1:c.*538C=	ENSP00000490388.1:n.*538C=
ENST00000636563.1:n.420C=
ENST00000636577.1:c.698C=	ENSP00000490027.1:p.Thr233=
ENST00000636691.1:c.563C=	ENSP00000490725.1:p.Thr188=
ENST00000636701.1:c.*409C=	ENSP00000489800.1:n.*409C=
ENST00000636815.1:c.675C=
ENST00000636920.1:c.*594C=	ENSP00000490437.1:n.*594C=
ENST00000636997.1:c.671C=	ENSP00000490093.1:p.Thr224=
ENST00000637013.1:c.*1126C=	ENSP00000490596.1:n.*1126C=
ENST00000637014.1:n.1165C=
ENST00000637095.1:c.*538C=	ENSP00000490415.1:n.*538C=
ENST00000637244.1:c.*1276C=	ENSP00000490188.1:n.*1276C=
ENST00000637343.1:n.2195C=
ENST00000637429.1:c.*970C=	ENSP00000490522.1:n.*970C=
ENST00000637484.1:c.*720C=	ENSP00000490837.1:n.*720C=
ENST00000637528.1:c.695C=	ENSP00000490801.1:p.Thr232=
ENST00000637609.1:n.3479C=
ENST00000637636.1:c.752C=	ENSP00000490112.1:p.Thr251=
ENST00000637790.2:c.758C= MANE Select	ENSP00000490272.1:p.Thr253=
ENST00000637857.1:n.1124C=
ENST00000637922.1:c.563C=	ENSP00000490071.1:p.Thr188=
ENST00000637991.1:c.731C=	ENSP00000489901.1:p.Thr244=
ENST00000638028.1:n.975C=
ENST00000638069.1:n.1579C=
ENST00000262097.10:c.758C=	ENSP00000262097.6:p.Thr253=
ENST00000314146.10:c.740C=	ENSP00000326970.10:p.Thr247=
ENST00000381733.8:c.806C=	ENSP00000371152.4:p.Thr269=
ENST00000518746.1:n.575C=
ENST00000519468.5:n.587C=
ENST00000520781.5:c.683C=	ENSP00000427751.1:p.Thr228=
ENST00000521542.1:n.471C=
NM_001127505.1:c.740C=	NP_001120977.1:p.Thr247=
NM_001127505.2:c.740C=	NP_001120977.1:p.Thr247=
NM_004315.4:c.806C=	NP_004306.3:p.Thr269=
NM_004315.5:c.806C=	NP_004306.3:p.Thr269=
NM_177924.3:c.758C=	NP_808592.2:p.Thr253=
NM_177924.4:c.758C=	NP_808592.2:p.Thr253=
XM_005273504.2:c.692C=	XP_005273561.1:p.Thr231=
NM_001363743.1:c.563C=	NP_001350672.1:p.Thr188=
XM_005273504.3:c.692C=	XP_005273561.1:p.Thr231=
NM_177924.5:c.758C= MANE Select	NP_808592.2:p.Thr253=
NM_001127505.3:c.740C=	NP_001120977.1:p.Thr247=
NM_001363743.2:c.563C=	NP_001350672.1:p.Thr188=
NM_004315.6:c.806C=	NP_004306.3:p.Thr269=