Canonical Allele Identifier: CA370429409

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918936A>C (hg19) ; chr8:g.18061427A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061427A>C , CM000670.2:g.18061427A>C	GRCh38
NC_000008.10:g.17918936A>C , CM000670.1:g.17918936A>C	GRCh37
NC_000008.9:g.17963216A>C	NCBI36
NG_008985.1:g.28572T>G
NG_008985.2:g.28572T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.783T>G	ENSP00000371152.4:p.Asp261Glu
ENST00000517409.2:n.703T>G
ENST00000518746.2:n.2421T>G
ENST00000519545.6:n.752T>G
ENST00000520781.6:c.660T>G	ENSP00000427751.1:p.Asp220Glu
ENST00000521542.2:n.43T>G
ENST00000635756.1:c.148T>G
ENST00000635944.1:c.*571T>G	ENSP00000490195.1:n.*571T>G
ENST00000635998.1:c.735T>G	ENSP00000490506.1:p.Asp245Glu
ENST00000636009.1:c.592T>G	ENSP00000489988.1:n.592T>G
ENST00000636033.1:c.*571T>G	ENSP00000489617.1:n.*571T>G
ENST00000636050.1:c.*578T>G	ENSP00000490562.1:n.*578T>G
ENST00000636128.1:c.414T>G	ENSP00000489789.1:p.Asp138Glu
ENST00000636160.1:c.*627T>G	ENSP00000489651.1:n.*627T>G
ENST00000636171.1:c.678T>G	ENSP00000489761.1:p.Asp226Glu
ENST00000636455.1:c.783T>G	ENSP00000490502.1:p.Asp261Glu
ENST00000636494.1:c.*515T>G	ENSP00000490388.1:n.*515T>G
ENST00000636563.1:n.397T>G
ENST00000636577.1:c.675T>G	ENSP00000490027.1:p.Asp225Glu
ENST00000636691.1:c.540T>G	ENSP00000490725.1:p.Asp180Glu
ENST00000636701.1:c.*386T>G	ENSP00000489800.1:n.*386T>G
ENST00000636815.1:c.652T>G
ENST00000636920.1:c.*571T>G	ENSP00000490437.1:n.*571T>G
ENST00000636997.1:c.648T>G	ENSP00000490093.1:p.Asp216Glu
ENST00000637013.1:c.*1103T>G	ENSP00000490596.1:n.*1103T>G
ENST00000637014.1:n.1142T>G
ENST00000637095.1:c.*515T>G	ENSP00000490415.1:n.*515T>G
ENST00000637244.1:c.*1253T>G	ENSP00000490188.1:n.*1253T>G
ENST00000637343.1:n.2172T>G
ENST00000637429.1:c.*947T>G	ENSP00000490522.1:n.*947T>G
ENST00000637484.1:c.*697T>G	ENSP00000490837.1:n.*697T>G
ENST00000637528.1:c.672T>G	ENSP00000490801.1:p.Asp224Glu
ENST00000637609.1:n.3456T>G
ENST00000637636.1:c.729T>G	ENSP00000490112.1:p.Asp243Glu
ENST00000637790.2:c.735T>G MANE Select	ENSP00000490272.1:p.Asp245Glu
ENST00000637857.1:n.1101T>G
ENST00000637922.1:c.540T>G	ENSP00000490071.1:p.Asp180Glu
ENST00000637991.1:c.708T>G	ENSP00000489901.1:p.Asp236Glu
ENST00000638028.1:n.952T>G
ENST00000638069.1:n.1556T>G
ENST00000262097.10:c.735T>G	ENSP00000262097.6:p.Asp245Glu
ENST00000314146.10:c.717T>G	ENSP00000326970.10:p.Asp239Glu
ENST00000381733.8:c.783T>G	ENSP00000371152.4:p.Asp261Glu
ENST00000518746.1:n.552T>G
ENST00000519468.5:n.564T>G
ENST00000520781.5:c.660T>G	ENSP00000427751.1:p.Asp220Glu
ENST00000521542.1:n.448T>G
NM_001127505.1:c.717T>G	NP_001120977.1:p.Asp239Glu
NM_001127505.2:c.717T>G	NP_001120977.1:p.Asp239Glu
NM_004315.4:c.783T>G	NP_004306.3:p.Asp261Glu
NM_004315.5:c.783T>G	NP_004306.3:p.Asp261Glu
NM_177924.3:c.735T>G	NP_808592.2:p.Asp245Glu
NM_177924.4:c.735T>G	NP_808592.2:p.Asp245Glu
XM_005273504.2:c.669T>G	XP_005273561.1:p.Asp223Glu
NM_001363743.1:c.540T>G	NP_001350672.1:p.Asp180Glu
XM_005273504.3:c.669T>G	XP_005273561.1:p.Asp223Glu
NM_177924.5:c.735T>G MANE Select	NP_808592.2:p.Asp245Glu
NM_001127505.3:c.717T>G	NP_001120977.1:p.Asp239Glu
NM_001363743.2:c.540T>G	NP_001350672.1:p.Asp180Glu
NM_004315.6:c.783T>G	NP_004306.3:p.Asp261Glu