Canonical Allele Identifier: CA370429416

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918938C>A (hg19) ; chr8:g.18061429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061429C>A , CM000670.2:g.18061429C>A	GRCh38
NC_000008.10:g.17918938C>A , CM000670.1:g.17918938C>A	GRCh37
NC_000008.9:g.17963218C>A	NCBI36
NG_008985.1:g.28570G>T
NG_008985.2:g.28570G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.781G>T	ENSP00000371152.4:p.Asp261Tyr
ENST00000517409.2:n.701G>T
ENST00000518746.2:n.2419G>T
ENST00000519545.6:n.750G>T
ENST00000520781.6:c.658G>T	ENSP00000427751.1:p.Asp220Tyr
ENST00000521542.2:n.41G>T
ENST00000635756.1:c.146G>T
ENST00000635944.1:c.*569G>T	ENSP00000490195.1:n.*569G>T
ENST00000635998.1:c.733G>T	ENSP00000490506.1:p.Asp245Tyr
ENST00000636009.1:c.590G>T	ENSP00000489988.1:n.590G>T
ENST00000636033.1:c.*569G>T	ENSP00000489617.1:n.*569G>T
ENST00000636050.1:c.*576G>T	ENSP00000490562.1:n.*576G>T
ENST00000636128.1:c.412G>T	ENSP00000489789.1:p.Asp138Tyr
ENST00000636160.1:c.*625G>T	ENSP00000489651.1:n.*625G>T
ENST00000636171.1:c.676G>T	ENSP00000489761.1:p.Asp226Tyr
ENST00000636455.1:c.781G>T	ENSP00000490502.1:p.Asp261Tyr
ENST00000636494.1:c.*513G>T	ENSP00000490388.1:n.*513G>T
ENST00000636563.1:n.395G>T
ENST00000636577.1:c.673G>T	ENSP00000490027.1:p.Asp225Tyr
ENST00000636691.1:c.538G>T	ENSP00000490725.1:p.Asp180Tyr
ENST00000636701.1:c.*384G>T	ENSP00000489800.1:n.*384G>T
ENST00000636815.1:c.650G>T
ENST00000636920.1:c.*569G>T	ENSP00000490437.1:n.*569G>T
ENST00000636997.1:c.646G>T	ENSP00000490093.1:p.Asp216Tyr
ENST00000637013.1:c.*1101G>T	ENSP00000490596.1:n.*1101G>T
ENST00000637014.1:n.1140G>T
ENST00000637095.1:c.*513G>T	ENSP00000490415.1:n.*513G>T
ENST00000637244.1:c.*1251G>T	ENSP00000490188.1:n.*1251G>T
ENST00000637343.1:n.2170G>T
ENST00000637429.1:c.*945G>T	ENSP00000490522.1:n.*945G>T
ENST00000637484.1:c.*695G>T	ENSP00000490837.1:n.*695G>T
ENST00000637528.1:c.670G>T	ENSP00000490801.1:p.Asp224Tyr
ENST00000637609.1:n.3454G>T
ENST00000637636.1:c.727G>T	ENSP00000490112.1:p.Asp243Tyr
ENST00000637790.2:c.733G>T MANE Select	ENSP00000490272.1:p.Asp245Tyr
ENST00000637857.1:n.1099G>T
ENST00000637922.1:c.538G>T	ENSP00000490071.1:p.Asp180Tyr
ENST00000637991.1:c.706G>T	ENSP00000489901.1:p.Asp236Tyr
ENST00000638028.1:n.950G>T
ENST00000638069.1:n.1554G>T
ENST00000262097.10:c.733G>T	ENSP00000262097.6:p.Asp245Tyr
ENST00000314146.10:c.715G>T	ENSP00000326970.10:p.Asp239Tyr
ENST00000381733.8:c.781G>T	ENSP00000371152.4:p.Asp261Tyr
ENST00000518746.1:n.550G>T
ENST00000519468.5:n.562G>T
ENST00000520781.5:c.658G>T	ENSP00000427751.1:p.Asp220Tyr
ENST00000521542.1:n.446G>T
NM_001127505.1:c.715G>T	NP_001120977.1:p.Asp239Tyr
NM_001127505.2:c.715G>T	NP_001120977.1:p.Asp239Tyr
NM_004315.4:c.781G>T	NP_004306.3:p.Asp261Tyr
NM_004315.5:c.781G>T	NP_004306.3:p.Asp261Tyr
NM_177924.3:c.733G>T	NP_808592.2:p.Asp245Tyr
NM_177924.4:c.733G>T	NP_808592.2:p.Asp245Tyr
XM_005273504.2:c.667G>T	XP_005273561.1:p.Asp223Tyr
NM_001363743.1:c.538G>T	NP_001350672.1:p.Asp180Tyr
XM_005273504.3:c.667G>T	XP_005273561.1:p.Asp223Tyr
NM_177924.5:c.733G>T MANE Select	NP_808592.2:p.Asp245Tyr
NM_001127505.3:c.715G>T	NP_001120977.1:p.Asp239Tyr
NM_001363743.2:c.538G>T	NP_001350672.1:p.Asp180Tyr
NM_004315.6:c.781G>T	NP_004306.3:p.Asp261Tyr