Canonical Allele Identifier: CA370429556

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061686C>G , CM000670.2:g.18061686C>G	GRCh38
NC_000008.10:g.17919195C>G , CM000670.1:g.17919195C>G	GRCh37
NC_000008.9:g.17963475C>G	NCBI36
NG_008985.1:g.28313G>C
NG_008985.2:g.28313G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.703G>C MANE Select	NP_808592.2:p.Gly235Arg
ENST00000637790.2:c.703G>C MANE Select	ENSP00000490272.1:p.Gly235Arg
NM_001127505.1:c.685G>C	NP_001120977.1:p.Gly229Arg
NM_001127505.2:c.685G>C	NP_001120977.1:p.Gly229Arg
NM_001127505.3:c.685G>C	NP_001120977.1:p.Gly229Arg
NM_001363743.1:c.508G>C	NP_001350672.1:p.Gly170Arg
NM_001363743.2:c.508G>C	NP_001350672.1:p.Gly170Arg
NM_004315.4:c.751G>C	NP_004306.3:p.Gly251Arg
NM_004315.5:c.751G>C	NP_004306.3:p.Gly251Arg
NM_004315.6:c.751G>C	NP_004306.3:p.Gly251Arg
NM_177924.3:c.703G>C	NP_808592.2:p.Gly235Arg
NM_177924.4:c.703G>C	NP_808592.2:p.Gly235Arg
ENST00000262097.10:c.703G>C	ENSP00000262097.6:p.Gly235Arg
ENST00000314146.10:c.685G>C	ENSP00000326970.10:p.Gly229Arg
ENST00000381733.8:c.751G>C	ENSP00000371152.4:p.Gly251Arg
ENST00000381733.9:c.751G>C	ENSP00000371152.4:p.Gly251Arg
ENST00000517409.2:n.671G>C
ENST00000518746.1:n.520G>C
ENST00000518746.2:n.2162G>C
ENST00000519468.5:n.532G>C
ENST00000519545.6:n.720G>C
ENST00000520781.5:c.628G>C	ENSP00000427751.1:p.Gly210Arg
ENST00000520781.6:c.628G>C	ENSP00000427751.1:p.Gly210Arg
ENST00000521542.1:n.189G>C
ENST00000521542.2:n.11G>C
ENST00000523593.5:n.556G>C
ENST00000635756.1:c.125G>C
ENST00000635944.1:c.*539G>C	ENSP00000490195.1:n.*539G>C
ENST00000635998.1:c.703G>C	ENSP00000490506.1:p.Gly235Arg
ENST00000636009.1:c.560G>C	ENSP00000489988.1:n.560G>C
ENST00000636033.1:c.*539G>C	ENSP00000489617.1:n.*539G>C
ENST00000636050.1:c.*546G>C	ENSP00000490562.1:n.*546G>C
ENST00000636128.1:c.383-228G>C	ENSP00000489789.1:n.383-228G>C
ENST00000636160.1:c.*595G>C	ENSP00000489651.1:n.*595G>C
ENST00000636171.1:c.646G>C	ENSP00000489761.1:p.Gly216Arg
ENST00000636455.1:c.751G>C	ENSP00000490502.1:p.Gly251Arg
ENST00000636494.1:c.*483G>C	ENSP00000490388.1:n.*483G>C
ENST00000636563.1:n.365G>C
ENST00000636577.1:c.643G>C	ENSP00000490027.1:p.Gly215Arg
ENST00000636691.1:c.508G>C	ENSP00000490725.1:p.Gly170Arg
ENST00000636701.1:c.*354G>C	ENSP00000489800.1:n.*354G>C
ENST00000636815.1:c.620G>C
ENST00000636920.1:c.*539G>C	ENSP00000490437.1:n.*539G>C
ENST00000636997.1:c.616G>C	ENSP00000490093.1:p.Gly206Arg
ENST00000637013.1:c.*1071G>C	ENSP00000490596.1:n.*1071G>C
ENST00000637014.1:n.1110G>C
ENST00000637095.1:c.*483G>C	ENSP00000490415.1:n.*483G>C
ENST00000637244.1:c.*1221G>C	ENSP00000490188.1:n.*1221G>C
ENST00000637343.1:n.2140G>C
ENST00000637429.1:c.*915G>C	ENSP00000490522.1:n.*915G>C
ENST00000637484.1:c.*665G>C	ENSP00000490837.1:n.*665G>C
ENST00000637528.1:c.640G>C	ENSP00000490801.1:p.Gly214Arg
ENST00000637609.1:n.3424G>C
ENST00000637636.1:c.697G>C	ENSP00000490112.1:p.Gly233Arg
ENST00000637857.1:n.842G>C
ENST00000637922.1:c.508G>C	ENSP00000490071.1:p.Gly170Arg
ENST00000637991.1:c.676G>C	ENSP00000489901.1:p.Gly226Arg
ENST00000638028.1:n.920G>C
ENST00000638069.1:n.1297G>C
XM_005273504.2:c.637G>C	XP_005273561.1:p.Gly213Arg
XM_005273504.3:c.637G>C	XP_005273561.1:p.Gly213Arg