Canonical Allele Identifier: CA370429249

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799691755
• MyVariant Identifiers: chr8:g.17918891G>T (hg19) ; chr8:g.18061382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061382G>T , CM000670.2:g.18061382G>T	GRCh38
NC_000008.10:g.17918891G>T , CM000670.1:g.17918891G>T	GRCh37
NC_000008.9:g.17963171G>T	NCBI36
NG_008985.1:g.28617C>A
NG_008985.2:g.28617C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.828C>A	ENSP00000371152.4:p.Ser276Arg
ENST00000518746.2:n.2466C>A
ENST00000520781.6:c.705C>A	ENSP00000427751.1:p.Ser235Arg
ENST00000521542.2:n.88C>A
ENST00000635756.1:c.193C>A
ENST00000635944.1:c.*616C>A	ENSP00000490195.1:n.*616C>A
ENST00000635998.1:c.780C>A	ENSP00000490506.1:p.Ser260Arg
ENST00000636009.1:c.637C>A	ENSP00000489988.1:n.637C>A
ENST00000636033.1:c.*616C>A	ENSP00000489617.1:n.*616C>A
ENST00000636050.1:c.*623C>A	ENSP00000490562.1:n.*623C>A
ENST00000636128.1:c.459C>A	ENSP00000489789.1:p.Ser153Arg
ENST00000636160.1:c.*672C>A	ENSP00000489651.1:n.*672C>A
ENST00000636171.1:c.723C>A	ENSP00000489761.1:p.Ser241Arg
ENST00000636455.1:c.828C>A	ENSP00000490502.1:p.Ser276Arg
ENST00000636494.1:c.*560C>A	ENSP00000490388.1:n.*560C>A
ENST00000636563.1:n.442C>A
ENST00000636577.1:c.720C>A	ENSP00000490027.1:p.Ser240Arg
ENST00000636691.1:c.585C>A	ENSP00000490725.1:p.Ser195Arg
ENST00000636701.1:c.*431C>A	ENSP00000489800.1:n.*431C>A
ENST00000636815.1:c.697C>A
ENST00000636920.1:c.*616C>A	ENSP00000490437.1:n.*616C>A
ENST00000636997.1:c.693C>A	ENSP00000490093.1:p.Ser231Arg
ENST00000637013.1:c.*1148C>A	ENSP00000490596.1:n.*1148C>A
ENST00000637014.1:n.1187C>A
ENST00000637095.1:c.*560C>A	ENSP00000490415.1:n.*560C>A
ENST00000637244.1:c.*1298C>A	ENSP00000490188.1:n.*1298C>A
ENST00000637343.1:n.2217C>A
ENST00000637429.1:c.*992C>A	ENSP00000490522.1:n.*992C>A
ENST00000637484.1:c.*742C>A	ENSP00000490837.1:n.*742C>A
ENST00000637528.1:c.717C>A	ENSP00000490801.1:p.Ser239Arg
ENST00000637609.1:n.3501C>A
ENST00000637636.1:c.774C>A	ENSP00000490112.1:p.Ser258Arg
ENST00000637790.2:c.780C>A MANE Select	ENSP00000490272.1:p.Ser260Arg
ENST00000637857.1:n.1146C>A
ENST00000637922.1:c.585C>A	ENSP00000490071.1:p.Ser195Arg
ENST00000637991.1:c.753C>A	ENSP00000489901.1:p.Ser251Arg
ENST00000638028.1:n.997C>A
ENST00000638069.1:n.1601C>A
ENST00000262097.10:c.780C>A	ENSP00000262097.6:p.Ser260Arg
ENST00000314146.10:c.762C>A	ENSP00000326970.10:p.Ser254Arg
ENST00000381733.8:c.828C>A	ENSP00000371152.4:p.Ser276Arg
ENST00000519468.5:n.609C>A
ENST00000520781.5:c.705C>A	ENSP00000427751.1:p.Ser235Arg
ENST00000521542.1:n.493C>A
NM_001127505.1:c.762C>A	NP_001120977.1:p.Ser254Arg
NM_001127505.2:c.762C>A	NP_001120977.1:p.Ser254Arg
NM_004315.4:c.828C>A	NP_004306.3:p.Ser276Arg
NM_004315.5:c.828C>A	NP_004306.3:p.Ser276Arg
NM_177924.3:c.780C>A	NP_808592.2:p.Ser260Arg
NM_177924.4:c.780C>A	NP_808592.2:p.Ser260Arg
XM_005273504.2:c.714C>A	XP_005273561.1:p.Ser238Arg
NM_001363743.1:c.585C>A	NP_001350672.1:p.Ser195Arg
XM_005273504.3:c.714C>A	XP_005273561.1:p.Ser238Arg
NM_177924.5:c.780C>A MANE Select	NP_808592.2:p.Ser260Arg
NM_001127505.3:c.762C>A	NP_001120977.1:p.Ser254Arg
NM_001363743.2:c.585C>A	NP_001350672.1:p.Ser195Arg
NM_004315.6:c.828C>A	NP_004306.3:p.Ser276Arg