Canonical Allele Identifier: CA459662227

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918966A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061457A>C , CM000670.2:g.18061457A>C	GRCh38
NC_000008.10:g.17918966A>C , CM000670.1:g.17918966A>C	GRCh37
NC_000008.9:g.17963246A>C	NCBI36
NG_008985.1:g.28542T>G
NG_008985.2:g.28542T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.753T>G	ENSP00000371152.4:p.Gly251=
ENST00000517409.2:n.673T>G
ENST00000518746.2:n.2391T>G
ENST00000519545.6:n.722T>G
ENST00000520781.6:c.630T>G	ENSP00000427751.1:p.Gly210=
ENST00000521542.2:n.13T>G
ENST00000635756.1:c.126-8T>G
ENST00000635944.1:c.*541T>G	ENSP00000490195.1:n.*541T>G
ENST00000635998.1:c.705T>G	ENSP00000490506.1:p.Gly235=
ENST00000636009.1:c.562T>G	ENSP00000489988.1:n.562T>G
ENST00000636033.1:c.*541T>G	ENSP00000489617.1:n.*541T>G
ENST00000636050.1:c.*548T>G	ENSP00000490562.1:n.*548T>G
ENST00000636128.1:c.384T>G	ENSP00000489789.1:p.Gly128=
ENST00000636160.1:c.*597T>G	ENSP00000489651.1:n.*597T>G
ENST00000636171.1:c.648T>G	ENSP00000489761.1:p.Gly216=
ENST00000636455.1:c.753T>G	ENSP00000490502.1:p.Gly251=
ENST00000636494.1:c.*485T>G	ENSP00000490388.1:n.*485T>G
ENST00000636563.1:n.367T>G
ENST00000636577.1:c.645T>G	ENSP00000490027.1:p.Gly215=
ENST00000636691.1:c.510T>G	ENSP00000490725.1:p.Gly170=
ENST00000636701.1:c.*356T>G	ENSP00000489800.1:n.*356T>G
ENST00000636815.1:c.622T>G
ENST00000636920.1:c.*541T>G	ENSP00000490437.1:n.*541T>G
ENST00000636997.1:c.618T>G	ENSP00000490093.1:p.Gly206=
ENST00000637013.1:c.*1073T>G	ENSP00000490596.1:n.*1073T>G
ENST00000637014.1:n.1112T>G
ENST00000637095.1:c.*485T>G	ENSP00000490415.1:n.*485T>G
ENST00000637244.1:c.*1223T>G	ENSP00000490188.1:n.*1223T>G
ENST00000637343.1:n.2142T>G
ENST00000637429.1:c.*917T>G	ENSP00000490522.1:n.*917T>G
ENST00000637484.1:c.*667T>G	ENSP00000490837.1:n.*667T>G
ENST00000637528.1:c.642T>G	ENSP00000490801.1:p.Gly214=
ENST00000637609.1:n.3426T>G
ENST00000637636.1:c.699T>G	ENSP00000490112.1:p.Gly233=
ENST00000637790.2:c.705T>G MANE Select	ENSP00000490272.1:p.Gly235=
ENST00000637857.1:n.1071T>G
ENST00000637922.1:c.510T>G	ENSP00000490071.1:p.Gly170=
ENST00000637991.1:c.678T>G	ENSP00000489901.1:p.Gly226=
ENST00000638028.1:n.922T>G
ENST00000638069.1:n.1526T>G
ENST00000262097.10:c.705T>G	ENSP00000262097.6:p.Gly235=
ENST00000314146.10:c.687T>G	ENSP00000326970.10:p.Gly229=
ENST00000381733.8:c.753T>G	ENSP00000371152.4:p.Gly251=
ENST00000518746.1:n.522T>G
ENST00000519468.5:n.534T>G
ENST00000520781.5:c.630T>G	ENSP00000427751.1:p.Gly210=
ENST00000521542.1:n.418T>G
NM_001127505.1:c.687T>G	NP_001120977.1:p.Gly229=
NM_001127505.2:c.687T>G	NP_001120977.1:p.Gly229=
NM_004315.4:c.753T>G	NP_004306.3:p.Gly251=
NM_004315.5:c.753T>G	NP_004306.3:p.Gly251=
NM_177924.3:c.705T>G	NP_808592.2:p.Gly235=
NM_177924.4:c.705T>G	NP_808592.2:p.Gly235=
XM_005273504.2:c.639T>G	XP_005273561.1:p.Gly213=
NM_001363743.1:c.510T>G	NP_001350672.1:p.Gly170=
XM_005273504.3:c.639T>G	XP_005273561.1:p.Gly213=
NM_177924.5:c.705T>G MANE Select	NP_808592.2:p.Gly235=
NM_001127505.3:c.687T>G	NP_001120977.1:p.Gly229=
NM_001363743.2:c.510T>G	NP_001350672.1:p.Gly170=
NM_004315.6:c.753T>G	NP_004306.3:p.Gly251=