Canonical Allele Identifier: CA4650696

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 779830
• ClinVar RCV Id: RCV000960788
• dbSNP Id: rs373977871
• ExAC: 8:17918950 G / A
• gnomAD v2: 8-17918950-G-A
• gnomAD v3: 8-18061441-G-A
• gnomAD v4: 8-18061441-G-A
• MyVariant Identifiers: chr8:g.17918950G>A (hg19) ; chr8:g.18061441G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061441G>A , CM000670.2:g.18061441G>A	GRCh38
NC_000008.10:g.17918950G>A , CM000670.1:g.17918950G>A	GRCh37
NC_000008.9:g.17963230G>A	NCBI36
NG_008985.1:g.28558C>T
NG_008985.2:g.28558C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.769C>T	ENSP00000371152.4:p.Leu257=
ENST00000517409.2:n.689C>T
ENST00000518746.2:n.2407C>T
ENST00000519545.6:n.738C>T
ENST00000520781.6:c.646C>T	ENSP00000427751.1:p.Leu216=
ENST00000521542.2:n.29C>T
ENST00000635756.1:c.134C>T
ENST00000635944.1:c.*557C>T	ENSP00000490195.1:n.*557C>T
ENST00000635998.1:c.721C>T	ENSP00000490506.1:p.Leu241=
ENST00000636009.1:c.578C>T	ENSP00000489988.1:n.578C>T
ENST00000636033.1:c.*557C>T	ENSP00000489617.1:n.*557C>T
ENST00000636050.1:c.*564C>T	ENSP00000490562.1:n.*564C>T
ENST00000636128.1:c.400C>T	ENSP00000489789.1:p.Leu134=
ENST00000636160.1:c.*613C>T	ENSP00000489651.1:n.*613C>T
ENST00000636171.1:c.664C>T	ENSP00000489761.1:p.Leu222=
ENST00000636455.1:c.769C>T	ENSP00000490502.1:p.Leu257=
ENST00000636494.1:c.*501C>T	ENSP00000490388.1:n.*501C>T
ENST00000636563.1:n.383C>T
ENST00000636577.1:c.661C>T	ENSP00000490027.1:p.Leu221=
ENST00000636691.1:c.526C>T	ENSP00000490725.1:p.Leu176=
ENST00000636701.1:c.*372C>T	ENSP00000489800.1:n.*372C>T
ENST00000636815.1:c.638C>T
ENST00000636920.1:c.*557C>T	ENSP00000490437.1:n.*557C>T
ENST00000636997.1:c.634C>T	ENSP00000490093.1:p.Leu212=
ENST00000637013.1:c.*1089C>T	ENSP00000490596.1:n.*1089C>T
ENST00000637014.1:n.1128C>T
ENST00000637095.1:c.*501C>T	ENSP00000490415.1:n.*501C>T
ENST00000637244.1:c.*1239C>T	ENSP00000490188.1:n.*1239C>T
ENST00000637343.1:n.2158C>T
ENST00000637429.1:c.*933C>T	ENSP00000490522.1:n.*933C>T
ENST00000637484.1:c.*683C>T	ENSP00000490837.1:n.*683C>T
ENST00000637528.1:c.658C>T	ENSP00000490801.1:p.Leu220=
ENST00000637609.1:n.3442C>T
ENST00000637636.1:c.715C>T	ENSP00000490112.1:p.Leu239=
ENST00000637790.2:c.721C>T MANE Select	ENSP00000490272.1:p.Leu241=
ENST00000637857.1:n.1087C>T
ENST00000637922.1:c.526C>T	ENSP00000490071.1:p.Leu176=
ENST00000637991.1:c.694C>T	ENSP00000489901.1:p.Leu232=
ENST00000638028.1:n.938C>T
ENST00000638069.1:n.1542C>T
ENST00000262097.10:c.721C>T	ENSP00000262097.6:p.Leu241=
ENST00000314146.10:c.703C>T	ENSP00000326970.10:p.Leu235=
ENST00000381733.8:c.769C>T	ENSP00000371152.4:p.Leu257=
ENST00000518746.1:n.538C>T
ENST00000519468.5:n.550C>T
ENST00000520781.5:c.646C>T	ENSP00000427751.1:p.Leu216=
ENST00000521542.1:n.434C>T
NM_001127505.1:c.703C>T	NP_001120977.1:p.Leu235=
NM_001127505.2:c.703C>T	NP_001120977.1:p.Leu235=
NM_004315.4:c.769C>T	NP_004306.3:p.Leu257=
NM_004315.5:c.769C>T	NP_004306.3:p.Leu257=
NM_177924.3:c.721C>T	NP_808592.2:p.Leu241=
NM_177924.4:c.721C>T	NP_808592.2:p.Leu241=
XM_005273504.2:c.655C>T	XP_005273561.1:p.Leu219=
NM_001363743.1:c.526C>T	NP_001350672.1:p.Leu176=
XM_005273504.3:c.655C>T	XP_005273561.1:p.Leu219=
NM_177924.5:c.721C>T MANE Select	NP_808592.2:p.Leu241=
NM_001127505.3:c.703C>T	NP_001120977.1:p.Leu235=
NM_001363743.2:c.526C>T	NP_001350672.1:p.Leu176=
NM_004315.6:c.769C>T	NP_004306.3:p.Leu257=