Canonical Allele Identifier: CA370429477

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918957T>A (hg19) ; chr8:g.18061448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061448T>A , CM000670.2:g.18061448T>A	GRCh38
NC_000008.10:g.17918957T>A , CM000670.1:g.17918957T>A	GRCh37
NC_000008.9:g.17963237T>A	NCBI36
NG_008985.1:g.28551A>T
NG_008985.2:g.28551A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.762A>T	ENSP00000371152.4:p.Glu254Asp
ENST00000517409.2:n.682A>T
ENST00000518746.2:n.2400A>T
ENST00000519545.6:n.731A>T
ENST00000520781.6:c.639A>T	ENSP00000427751.1:p.Glu213Asp
ENST00000521542.2:n.22A>T
ENST00000635756.1:c.127A>T
ENST00000635944.1:c.*550A>T	ENSP00000490195.1:n.*550A>T
ENST00000635998.1:c.714A>T	ENSP00000490506.1:p.Glu238Asp
ENST00000636009.1:c.571A>T	ENSP00000489988.1:n.571A>T
ENST00000636033.1:c.*550A>T	ENSP00000489617.1:n.*550A>T
ENST00000636050.1:c.*557A>T	ENSP00000490562.1:n.*557A>T
ENST00000636128.1:c.393A>T	ENSP00000489789.1:p.Glu131Asp
ENST00000636160.1:c.*606A>T	ENSP00000489651.1:n.*606A>T
ENST00000636171.1:c.657A>T	ENSP00000489761.1:p.Glu219Asp
ENST00000636455.1:c.762A>T	ENSP00000490502.1:p.Glu254Asp
ENST00000636494.1:c.*494A>T	ENSP00000490388.1:n.*494A>T
ENST00000636563.1:n.376A>T
ENST00000636577.1:c.654A>T	ENSP00000490027.1:p.Glu218Asp
ENST00000636691.1:c.519A>T	ENSP00000490725.1:p.Glu173Asp
ENST00000636701.1:c.*365A>T	ENSP00000489800.1:n.*365A>T
ENST00000636815.1:c.631A>T
ENST00000636920.1:c.*550A>T	ENSP00000490437.1:n.*550A>T
ENST00000636997.1:c.627A>T	ENSP00000490093.1:p.Glu209Asp
ENST00000637013.1:c.*1082A>T	ENSP00000490596.1:n.*1082A>T
ENST00000637014.1:n.1121A>T
ENST00000637095.1:c.*494A>T	ENSP00000490415.1:n.*494A>T
ENST00000637244.1:c.*1232A>T	ENSP00000490188.1:n.*1232A>T
ENST00000637343.1:n.2151A>T
ENST00000637429.1:c.*926A>T	ENSP00000490522.1:n.*926A>T
ENST00000637484.1:c.*676A>T	ENSP00000490837.1:n.*676A>T
ENST00000637528.1:c.651A>T	ENSP00000490801.1:p.Glu217Asp
ENST00000637609.1:n.3435A>T
ENST00000637636.1:c.708A>T	ENSP00000490112.1:p.Glu236Asp
ENST00000637790.2:c.714A>T MANE Select	ENSP00000490272.1:p.Glu238Asp
ENST00000637857.1:n.1080A>T
ENST00000637922.1:c.519A>T	ENSP00000490071.1:p.Glu173Asp
ENST00000637991.1:c.687A>T	ENSP00000489901.1:p.Glu229Asp
ENST00000638028.1:n.931A>T
ENST00000638069.1:n.1535A>T
ENST00000262097.10:c.714A>T	ENSP00000262097.6:p.Glu238Asp
ENST00000314146.10:c.696A>T	ENSP00000326970.10:p.Glu232Asp
ENST00000381733.8:c.762A>T	ENSP00000371152.4:p.Glu254Asp
ENST00000518746.1:n.531A>T
ENST00000519468.5:n.543A>T
ENST00000520781.5:c.639A>T	ENSP00000427751.1:p.Glu213Asp
ENST00000521542.1:n.427A>T
NM_001127505.1:c.696A>T	NP_001120977.1:p.Glu232Asp
NM_001127505.2:c.696A>T	NP_001120977.1:p.Glu232Asp
NM_004315.4:c.762A>T	NP_004306.3:p.Glu254Asp
NM_004315.5:c.762A>T	NP_004306.3:p.Glu254Asp
NM_177924.3:c.714A>T	NP_808592.2:p.Glu238Asp
NM_177924.4:c.714A>T	NP_808592.2:p.Glu238Asp
XM_005273504.2:c.648A>T	XP_005273561.1:p.Glu216Asp
NM_001363743.1:c.519A>T	NP_001350672.1:p.Glu173Asp
XM_005273504.3:c.648A>T	XP_005273561.1:p.Glu216Asp
NM_177924.5:c.714A>T MANE Select	NP_808592.2:p.Glu238Asp
NM_001127505.3:c.696A>T	NP_001120977.1:p.Glu232Asp
NM_001363743.2:c.519A>T	NP_001350672.1:p.Glu173Asp
NM_004315.6:c.762A>T	NP_004306.3:p.Glu254Asp