Canonical Allele Identifier: CA1768019920

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061402T= , CM000670.2:g.18061402T=	GRCh38
NC_000008.10:g.17918911T= , CM000670.1:g.17918911T=	GRCh37
NC_000008.9:g.17963191T=	NCBI36
NG_008985.1:g.28597A=
NG_008985.2:g.28597A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.808A=	ENSP00000371152.4:p.Arg270=
ENST00000517409.2:n.728A=
ENST00000518746.2:n.2446A=
ENST00000520781.6:c.685A=	ENSP00000427751.1:p.Arg229=
ENST00000521542.2:n.68A=
ENST00000635756.1:c.173A=
ENST00000635944.1:c.*596A=	ENSP00000490195.1:n.*596A=
ENST00000635998.1:c.760A=	ENSP00000490506.1:p.Arg254=
ENST00000636009.1:c.617A=	ENSP00000489988.1:n.617A=
ENST00000636033.1:c.*596A=	ENSP00000489617.1:n.*596A=
ENST00000636050.1:c.*603A=	ENSP00000490562.1:n.*603A=
ENST00000636128.1:c.439A=	ENSP00000489789.1:p.Arg147=
ENST00000636160.1:c.*652A=	ENSP00000489651.1:n.*652A=
ENST00000636171.1:c.703A=	ENSP00000489761.1:p.Arg235=
ENST00000636455.1:c.808A=	ENSP00000490502.1:p.Arg270=
ENST00000636494.1:c.*540A=	ENSP00000490388.1:n.*540A=
ENST00000636563.1:n.422A=
ENST00000636577.1:c.700A=	ENSP00000490027.1:p.Arg234=
ENST00000636691.1:c.565A=	ENSP00000490725.1:p.Arg189=
ENST00000636701.1:c.*411A=	ENSP00000489800.1:n.*411A=
ENST00000636815.1:c.677A=
ENST00000636920.1:c.*596A=	ENSP00000490437.1:n.*596A=
ENST00000636997.1:c.673A=	ENSP00000490093.1:p.Arg225=
ENST00000637013.1:c.*1128A=	ENSP00000490596.1:n.*1128A=
ENST00000637014.1:n.1167A=
ENST00000637095.1:c.*540A=	ENSP00000490415.1:n.*540A=
ENST00000637244.1:c.*1278A=	ENSP00000490188.1:n.*1278A=
ENST00000637343.1:n.2197A=
ENST00000637429.1:c.*972A=	ENSP00000490522.1:n.*972A=
ENST00000637484.1:c.*722A=	ENSP00000490837.1:n.*722A=
ENST00000637528.1:c.697A=	ENSP00000490801.1:p.Arg233=
ENST00000637609.1:n.3481A=
ENST00000637636.1:c.754A=	ENSP00000490112.1:p.Arg252=
ENST00000637790.2:c.760A= MANE Select	ENSP00000490272.1:p.Arg254=
ENST00000637857.1:n.1126A=
ENST00000637922.1:c.565A=	ENSP00000490071.1:p.Arg189=
ENST00000637991.1:c.733A=	ENSP00000489901.1:p.Arg245=
ENST00000638028.1:n.977A=
ENST00000638069.1:n.1581A=
ENST00000262097.10:c.760A=	ENSP00000262097.6:p.Arg254=
ENST00000314146.10:c.742A=	ENSP00000326970.10:p.Arg248=
ENST00000381733.8:c.808A=	ENSP00000371152.4:p.Arg270=
ENST00000518746.1:n.577A=
ENST00000519468.5:n.589A=
ENST00000520781.5:c.685A=	ENSP00000427751.1:p.Arg229=
ENST00000521542.1:n.473A=
NM_001127505.1:c.742A=	NP_001120977.1:p.Arg248=
NM_001127505.2:c.742A=	NP_001120977.1:p.Arg248=
NM_004315.4:c.808A=	NP_004306.3:p.Arg270=
NM_004315.5:c.808A=	NP_004306.3:p.Arg270=
NM_177924.3:c.760A=	NP_808592.2:p.Arg254=
NM_177924.4:c.760A=	NP_808592.2:p.Arg254=
XM_005273504.2:c.694A=	XP_005273561.1:p.Arg232=
NM_001363743.1:c.565A=	NP_001350672.1:p.Arg189=
XM_005273504.3:c.694A=	XP_005273561.1:p.Arg232=
NM_177924.5:c.760A= MANE Select	NP_808592.2:p.Arg254=
NM_001127505.3:c.742A=	NP_001120977.1:p.Arg248=
NM_001363743.2:c.565A=	NP_001350672.1:p.Arg189=
NM_004315.6:c.808A=	NP_004306.3:p.Arg270=