Canonical Allele Identifier: CA370429481

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918958T>G (hg19) ; chr8:g.18061449T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061449T>G , CM000670.2:g.18061449T>G	GRCh38
NC_000008.10:g.17918958T>G , CM000670.1:g.17918958T>G	GRCh37
NC_000008.9:g.17963238T>G	NCBI36
NG_008985.1:g.28550A>C
NG_008985.2:g.28550A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.761A>C	ENSP00000371152.4:p.Glu254Ala
ENST00000517409.2:n.681A>C
ENST00000518746.2:n.2399A>C
ENST00000519545.6:n.730A>C
ENST00000520781.6:c.638A>C	ENSP00000427751.1:p.Glu213Ala
ENST00000521542.2:n.21A>C
ENST00000635756.1:c.126A>C
ENST00000635944.1:c.*549A>C	ENSP00000490195.1:n.*549A>C
ENST00000635998.1:c.713A>C	ENSP00000490506.1:p.Glu238Ala
ENST00000636009.1:c.570A>C	ENSP00000489988.1:n.570A>C
ENST00000636033.1:c.*549A>C	ENSP00000489617.1:n.*549A>C
ENST00000636050.1:c.*556A>C	ENSP00000490562.1:n.*556A>C
ENST00000636128.1:c.392A>C	ENSP00000489789.1:p.Glu131Ala
ENST00000636160.1:c.*605A>C	ENSP00000489651.1:n.*605A>C
ENST00000636171.1:c.656A>C	ENSP00000489761.1:p.Glu219Ala
ENST00000636455.1:c.761A>C	ENSP00000490502.1:p.Glu254Ala
ENST00000636494.1:c.*493A>C	ENSP00000490388.1:n.*493A>C
ENST00000636563.1:n.375A>C
ENST00000636577.1:c.653A>C	ENSP00000490027.1:p.Glu218Ala
ENST00000636691.1:c.518A>C	ENSP00000490725.1:p.Glu173Ala
ENST00000636701.1:c.*364A>C	ENSP00000489800.1:n.*364A>C
ENST00000636815.1:c.630A>C
ENST00000636920.1:c.*549A>C	ENSP00000490437.1:n.*549A>C
ENST00000636997.1:c.626A>C	ENSP00000490093.1:p.Glu209Ala
ENST00000637013.1:c.*1081A>C	ENSP00000490596.1:n.*1081A>C
ENST00000637014.1:n.1120A>C
ENST00000637095.1:c.*493A>C	ENSP00000490415.1:n.*493A>C
ENST00000637244.1:c.*1231A>C	ENSP00000490188.1:n.*1231A>C
ENST00000637343.1:n.2150A>C
ENST00000637429.1:c.*925A>C	ENSP00000490522.1:n.*925A>C
ENST00000637484.1:c.*675A>C	ENSP00000490837.1:n.*675A>C
ENST00000637528.1:c.650A>C	ENSP00000490801.1:p.Glu217Ala
ENST00000637609.1:n.3434A>C
ENST00000637636.1:c.707A>C	ENSP00000490112.1:p.Glu236Ala
ENST00000637790.2:c.713A>C MANE Select	ENSP00000490272.1:p.Glu238Ala
ENST00000637857.1:n.1079A>C
ENST00000637922.1:c.518A>C	ENSP00000490071.1:p.Glu173Ala
ENST00000637991.1:c.686A>C	ENSP00000489901.1:p.Glu229Ala
ENST00000638028.1:n.930A>C
ENST00000638069.1:n.1534A>C
ENST00000262097.10:c.713A>C	ENSP00000262097.6:p.Glu238Ala
ENST00000314146.10:c.695A>C	ENSP00000326970.10:p.Glu232Ala
ENST00000381733.8:c.761A>C	ENSP00000371152.4:p.Glu254Ala
ENST00000518746.1:n.530A>C
ENST00000519468.5:n.542A>C
ENST00000520781.5:c.638A>C	ENSP00000427751.1:p.Glu213Ala
ENST00000521542.1:n.426A>C
NM_001127505.1:c.695A>C	NP_001120977.1:p.Glu232Ala
NM_001127505.2:c.695A>C	NP_001120977.1:p.Glu232Ala
NM_004315.4:c.761A>C	NP_004306.3:p.Glu254Ala
NM_004315.5:c.761A>C	NP_004306.3:p.Glu254Ala
NM_177924.3:c.713A>C	NP_808592.2:p.Glu238Ala
NM_177924.4:c.713A>C	NP_808592.2:p.Glu238Ala
XM_005273504.2:c.647A>C	XP_005273561.1:p.Glu216Ala
NM_001363743.1:c.518A>C	NP_001350672.1:p.Glu173Ala
XM_005273504.3:c.647A>C	XP_005273561.1:p.Glu216Ala
NM_177924.5:c.713A>C MANE Select	NP_808592.2:p.Glu238Ala
NM_001127505.3:c.695A>C	NP_001120977.1:p.Glu232Ala
NM_001363743.2:c.518A>C	NP_001350672.1:p.Glu173Ala
NM_004315.6:c.761A>C	NP_004306.3:p.Glu254Ala