Canonical Allele Identifier: CA1768019983

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061428T= , CM000670.2:g.18061428T=	GRCh38
NC_000008.10:g.17918937T= , CM000670.1:g.17918937T=	GRCh37
NC_000008.9:g.17963217T=	NCBI36
NG_008985.1:g.28571A=
NG_008985.2:g.28571A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.782A=	ENSP00000371152.4:p.Asp261=
ENST00000517409.2:n.702A=
ENST00000518746.2:n.2420A=
ENST00000519545.6:n.751A=
ENST00000520781.6:c.659A=	ENSP00000427751.1:p.Asp220=
ENST00000521542.2:n.42A=
ENST00000635756.1:c.147A=
ENST00000635944.1:c.*570A=	ENSP00000490195.1:n.*570A=
ENST00000635998.1:c.734A=	ENSP00000490506.1:p.Asp245=
ENST00000636009.1:c.591A=	ENSP00000489988.1:n.591A=
ENST00000636033.1:c.*570A=	ENSP00000489617.1:n.*570A=
ENST00000636050.1:c.*577A=	ENSP00000490562.1:n.*577A=
ENST00000636128.1:c.413A=	ENSP00000489789.1:p.Asp138=
ENST00000636160.1:c.*626A=	ENSP00000489651.1:n.*626A=
ENST00000636171.1:c.677A=	ENSP00000489761.1:p.Asp226=
ENST00000636455.1:c.782A=	ENSP00000490502.1:p.Asp261=
ENST00000636494.1:c.*514A=	ENSP00000490388.1:n.*514A=
ENST00000636563.1:n.396A=
ENST00000636577.1:c.674A=	ENSP00000490027.1:p.Asp225=
ENST00000636691.1:c.539A=	ENSP00000490725.1:p.Asp180=
ENST00000636701.1:c.*385A=	ENSP00000489800.1:n.*385A=
ENST00000636815.1:c.651A=
ENST00000636920.1:c.*570A=	ENSP00000490437.1:n.*570A=
ENST00000636997.1:c.647A=	ENSP00000490093.1:p.Asp216=
ENST00000637013.1:c.*1102A=	ENSP00000490596.1:n.*1102A=
ENST00000637014.1:n.1141A=
ENST00000637095.1:c.*514A=	ENSP00000490415.1:n.*514A=
ENST00000637244.1:c.*1252A=	ENSP00000490188.1:n.*1252A=
ENST00000637343.1:n.2171A=
ENST00000637429.1:c.*946A=	ENSP00000490522.1:n.*946A=
ENST00000637484.1:c.*696A=	ENSP00000490837.1:n.*696A=
ENST00000637528.1:c.671A=	ENSP00000490801.1:p.Asp224=
ENST00000637609.1:n.3455A=
ENST00000637636.1:c.728A=	ENSP00000490112.1:p.Asp243=
ENST00000637790.2:c.734A= MANE Select	ENSP00000490272.1:p.Asp245=
ENST00000637857.1:n.1100A=
ENST00000637922.1:c.539A=	ENSP00000490071.1:p.Asp180=
ENST00000637991.1:c.707A=	ENSP00000489901.1:p.Asp236=
ENST00000638028.1:n.951A=
ENST00000638069.1:n.1555A=
ENST00000262097.10:c.734A=	ENSP00000262097.6:p.Asp245=
ENST00000314146.10:c.716A=	ENSP00000326970.10:p.Asp239=
ENST00000381733.8:c.782A=	ENSP00000371152.4:p.Asp261=
ENST00000518746.1:n.551A=
ENST00000519468.5:n.563A=
ENST00000520781.5:c.659A=	ENSP00000427751.1:p.Asp220=
ENST00000521542.1:n.447A=
NM_001127505.1:c.716A=	NP_001120977.1:p.Asp239=
NM_001127505.2:c.716A=	NP_001120977.1:p.Asp239=
NM_004315.4:c.782A=	NP_004306.3:p.Asp261=
NM_004315.5:c.782A=	NP_004306.3:p.Asp261=
NM_177924.3:c.734A=	NP_808592.2:p.Asp245=
NM_177924.4:c.734A=	NP_808592.2:p.Asp245=
XM_005273504.2:c.668A=	XP_005273561.1:p.Asp223=
NM_001363743.1:c.539A=	NP_001350672.1:p.Asp180=
XM_005273504.3:c.668A=	XP_005273561.1:p.Asp223=
NM_177924.5:c.734A= MANE Select	NP_808592.2:p.Asp245=
NM_001127505.3:c.716A=	NP_001120977.1:p.Asp239=
NM_001363743.2:c.539A=	NP_001350672.1:p.Asp180=
NM_004315.6:c.782A=	NP_004306.3:p.Asp261=