Canonical Allele Identifier: CA370429482

Gene: ASAH1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.761A>G	ENSP00000371152.4:p.Glu254Gly
ENST00000517409.2:n.681A>G
ENST00000518746.2:n.2399A>G
ENST00000519545.6:n.730A>G
ENST00000520781.6:c.638A>G	ENSP00000427751.1:p.Glu213Gly
ENST00000521542.2:n.21A>G
ENST00000635756.1:c.126A>G
ENST00000635944.1:c.*549A>G	ENSP00000490195.1:n.*549A>G
ENST00000635998.1:c.713A>G	ENSP00000490506.1:p.Glu238Gly
ENST00000636009.1:c.570A>G	ENSP00000489988.1:n.570A>G
ENST00000636033.1:c.*549A>G	ENSP00000489617.1:n.*549A>G
ENST00000636050.1:c.*556A>G	ENSP00000490562.1:n.*556A>G
ENST00000636128.1:c.392A>G	ENSP00000489789.1:p.Glu131Gly
ENST00000636160.1:c.*605A>G	ENSP00000489651.1:n.*605A>G
ENST00000636171.1:c.656A>G	ENSP00000489761.1:p.Glu219Gly
ENST00000636455.1:c.761A>G	ENSP00000490502.1:p.Glu254Gly
ENST00000636494.1:c.*493A>G	ENSP00000490388.1:n.*493A>G
ENST00000636563.1:n.375A>G
ENST00000636577.1:c.653A>G	ENSP00000490027.1:p.Glu218Gly
ENST00000636691.1:c.518A>G	ENSP00000490725.1:p.Glu173Gly
ENST00000636701.1:c.*364A>G	ENSP00000489800.1:n.*364A>G
ENST00000636815.1:c.630A>G
ENST00000636920.1:c.*549A>G	ENSP00000490437.1:n.*549A>G
ENST00000636997.1:c.626A>G	ENSP00000490093.1:p.Glu209Gly
ENST00000637013.1:c.*1081A>G	ENSP00000490596.1:n.*1081A>G
ENST00000637014.1:n.1120A>G
ENST00000637095.1:c.*493A>G	ENSP00000490415.1:n.*493A>G
ENST00000637244.1:c.*1231A>G	ENSP00000490188.1:n.*1231A>G
ENST00000637343.1:n.2150A>G
ENST00000637429.1:c.*925A>G	ENSP00000490522.1:n.*925A>G
ENST00000637484.1:c.*675A>G	ENSP00000490837.1:n.*675A>G
ENST00000637528.1:c.650A>G	ENSP00000490801.1:p.Glu217Gly
ENST00000637609.1:n.3434A>G
ENST00000637636.1:c.707A>G	ENSP00000490112.1:p.Glu236Gly
ENST00000637790.2:c.713A>G MANE Select	ENSP00000490272.1:p.Glu238Gly
ENST00000637857.1:n.1079A>G
ENST00000637922.1:c.518A>G	ENSP00000490071.1:p.Glu173Gly
ENST00000637991.1:c.686A>G	ENSP00000489901.1:p.Glu229Gly
ENST00000638028.1:n.930A>G
ENST00000638069.1:n.1534A>G
ENST00000262097.10:c.713A>G	ENSP00000262097.6:p.Glu238Gly
ENST00000314146.10:c.695A>G	ENSP00000326970.10:p.Glu232Gly
ENST00000381733.8:c.761A>G	ENSP00000371152.4:p.Glu254Gly
ENST00000518746.1:n.530A>G
ENST00000519468.5:n.542A>G
ENST00000520781.5:c.638A>G	ENSP00000427751.1:p.Glu213Gly
ENST00000521542.1:n.426A>G
NM_001127505.1:c.695A>G	NP_001120977.1:p.Glu232Gly
NM_001127505.2:c.695A>G	NP_001120977.1:p.Glu232Gly
NM_004315.4:c.761A>G	NP_004306.3:p.Glu254Gly
NM_004315.5:c.761A>G	NP_004306.3:p.Glu254Gly
NM_177924.3:c.713A>G	NP_808592.2:p.Glu238Gly
NM_177924.4:c.713A>G	NP_808592.2:p.Glu238Gly
XM_005273504.2:c.647A>G	XP_005273561.1:p.Glu216Gly
NM_001363743.1:c.518A>G	NP_001350672.1:p.Glu173Gly
XM_005273504.3:c.647A>G	XP_005273561.1:p.Glu216Gly
NM_177924.5:c.713A>G MANE Select	NP_808592.2:p.Glu238Gly
NM_001127505.3:c.695A>G	NP_001120977.1:p.Glu232Gly
NM_001363743.2:c.518A>G	NP_001350672.1:p.Glu173Gly
NM_004315.6:c.761A>G	NP_004306.3:p.Glu254Gly