Canonical Allele Identifier: CA459662217

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918948C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061439C>G , CM000670.2:g.18061439C>G	GRCh38
NC_000008.10:g.17918948C>G , CM000670.1:g.17918948C>G	GRCh37
NC_000008.9:g.17963228C>G	NCBI36
NG_008985.1:g.28560G>C
NG_008985.2:g.28560G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.771G>C	ENSP00000371152.4:p.Leu257=
ENST00000517409.2:n.691G>C
ENST00000518746.2:n.2409G>C
ENST00000519545.6:n.740G>C
ENST00000520781.6:c.648G>C	ENSP00000427751.1:p.Leu216=
ENST00000521542.2:n.31G>C
ENST00000635756.1:c.136G>C
ENST00000635944.1:c.*559G>C	ENSP00000490195.1:n.*559G>C
ENST00000635998.1:c.723G>C	ENSP00000490506.1:p.Leu241=
ENST00000636009.1:c.580G>C	ENSP00000489988.1:n.580G>C
ENST00000636033.1:c.*559G>C	ENSP00000489617.1:n.*559G>C
ENST00000636050.1:c.*566G>C	ENSP00000490562.1:n.*566G>C
ENST00000636128.1:c.402G>C	ENSP00000489789.1:p.Leu134=
ENST00000636160.1:c.*615G>C	ENSP00000489651.1:n.*615G>C
ENST00000636171.1:c.666G>C	ENSP00000489761.1:p.Leu222=
ENST00000636455.1:c.771G>C	ENSP00000490502.1:p.Leu257=
ENST00000636494.1:c.*503G>C	ENSP00000490388.1:n.*503G>C
ENST00000636563.1:n.385G>C
ENST00000636577.1:c.663G>C	ENSP00000490027.1:p.Leu221=
ENST00000636691.1:c.528G>C	ENSP00000490725.1:p.Leu176=
ENST00000636701.1:c.*374G>C	ENSP00000489800.1:n.*374G>C
ENST00000636815.1:c.640G>C
ENST00000636920.1:c.*559G>C	ENSP00000490437.1:n.*559G>C
ENST00000636997.1:c.636G>C	ENSP00000490093.1:p.Leu212=
ENST00000637013.1:c.*1091G>C	ENSP00000490596.1:n.*1091G>C
ENST00000637014.1:n.1130G>C
ENST00000637095.1:c.*503G>C	ENSP00000490415.1:n.*503G>C
ENST00000637244.1:c.*1241G>C	ENSP00000490188.1:n.*1241G>C
ENST00000637343.1:n.2160G>C
ENST00000637429.1:c.*935G>C	ENSP00000490522.1:n.*935G>C
ENST00000637484.1:c.*685G>C	ENSP00000490837.1:n.*685G>C
ENST00000637528.1:c.660G>C	ENSP00000490801.1:p.Leu220=
ENST00000637609.1:n.3444G>C
ENST00000637636.1:c.717G>C	ENSP00000490112.1:p.Leu239=
ENST00000637790.2:c.723G>C MANE Select	ENSP00000490272.1:p.Leu241=
ENST00000637857.1:n.1089G>C
ENST00000637922.1:c.528G>C	ENSP00000490071.1:p.Leu176=
ENST00000637991.1:c.696G>C	ENSP00000489901.1:p.Leu232=
ENST00000638028.1:n.940G>C
ENST00000638069.1:n.1544G>C
ENST00000262097.10:c.723G>C	ENSP00000262097.6:p.Leu241=
ENST00000314146.10:c.705G>C	ENSP00000326970.10:p.Leu235=
ENST00000381733.8:c.771G>C	ENSP00000371152.4:p.Leu257=
ENST00000518746.1:n.540G>C
ENST00000519468.5:n.552G>C
ENST00000520781.5:c.648G>C	ENSP00000427751.1:p.Leu216=
ENST00000521542.1:n.436G>C
NM_001127505.1:c.705G>C	NP_001120977.1:p.Leu235=
NM_001127505.2:c.705G>C	NP_001120977.1:p.Leu235=
NM_004315.4:c.771G>C	NP_004306.3:p.Leu257=
NM_004315.5:c.771G>C	NP_004306.3:p.Leu257=
NM_177924.3:c.723G>C	NP_808592.2:p.Leu241=
NM_177924.4:c.723G>C	NP_808592.2:p.Leu241=
XM_005273504.2:c.657G>C	XP_005273561.1:p.Leu219=
NM_001363743.1:c.528G>C	NP_001350672.1:p.Leu176=
XM_005273504.3:c.657G>C	XP_005273561.1:p.Leu219=
NM_177924.5:c.723G>C MANE Select	NP_808592.2:p.Leu241=
NM_001127505.3:c.705G>C	NP_001120977.1:p.Leu235=
NM_001363743.2:c.528G>C	NP_001350672.1:p.Leu176=
NM_004315.6:c.771G>C	NP_004306.3:p.Leu257=