Canonical Allele Identifier: CA370429422

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918940T>C (hg19) ; chr8:g.18061431T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061431T>C , CM000670.2:g.18061431T>C	GRCh38
NC_000008.10:g.17918940T>C , CM000670.1:g.17918940T>C	GRCh37
NC_000008.9:g.17963220T>C	NCBI36
NG_008985.1:g.28568A>G
NG_008985.2:g.28568A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.779A>G	ENSP00000371152.4:p.Lys260Arg
ENST00000517409.2:n.699A>G
ENST00000518746.2:n.2417A>G
ENST00000519545.6:n.748A>G
ENST00000520781.6:c.656A>G	ENSP00000427751.1:p.Lys219Arg
ENST00000521542.2:n.39A>G
ENST00000635756.1:c.144A>G
ENST00000635944.1:c.*567A>G	ENSP00000490195.1:n.*567A>G
ENST00000635998.1:c.731A>G	ENSP00000490506.1:p.Lys244Arg
ENST00000636009.1:c.588A>G	ENSP00000489988.1:n.588A>G
ENST00000636033.1:c.*567A>G	ENSP00000489617.1:n.*567A>G
ENST00000636050.1:c.*574A>G	ENSP00000490562.1:n.*574A>G
ENST00000636128.1:c.410A>G	ENSP00000489789.1:p.Lys137Arg
ENST00000636160.1:c.*623A>G	ENSP00000489651.1:n.*623A>G
ENST00000636171.1:c.674A>G	ENSP00000489761.1:p.Lys225Arg
ENST00000636455.1:c.779A>G	ENSP00000490502.1:p.Lys260Arg
ENST00000636494.1:c.*511A>G	ENSP00000490388.1:n.*511A>G
ENST00000636563.1:n.393A>G
ENST00000636577.1:c.671A>G	ENSP00000490027.1:p.Lys224Arg
ENST00000636691.1:c.536A>G	ENSP00000490725.1:p.Lys179Arg
ENST00000636701.1:c.*382A>G	ENSP00000489800.1:n.*382A>G
ENST00000636815.1:c.648A>G
ENST00000636920.1:c.*567A>G	ENSP00000490437.1:n.*567A>G
ENST00000636997.1:c.644A>G	ENSP00000490093.1:p.Lys215Arg
ENST00000637013.1:c.*1099A>G	ENSP00000490596.1:n.*1099A>G
ENST00000637014.1:n.1138A>G
ENST00000637095.1:c.*511A>G	ENSP00000490415.1:n.*511A>G
ENST00000637244.1:c.*1249A>G	ENSP00000490188.1:n.*1249A>G
ENST00000637343.1:n.2168A>G
ENST00000637429.1:c.*943A>G	ENSP00000490522.1:n.*943A>G
ENST00000637484.1:c.*693A>G	ENSP00000490837.1:n.*693A>G
ENST00000637528.1:c.668A>G	ENSP00000490801.1:p.Lys223Arg
ENST00000637609.1:n.3452A>G
ENST00000637636.1:c.725A>G	ENSP00000490112.1:p.Lys242Arg
ENST00000637790.2:c.731A>G MANE Select	ENSP00000490272.1:p.Lys244Arg
ENST00000637857.1:n.1097A>G
ENST00000637922.1:c.536A>G	ENSP00000490071.1:p.Lys179Arg
ENST00000637991.1:c.704A>G	ENSP00000489901.1:p.Lys235Arg
ENST00000638028.1:n.948A>G
ENST00000638069.1:n.1552A>G
ENST00000262097.10:c.731A>G	ENSP00000262097.6:p.Lys244Arg
ENST00000314146.10:c.713A>G	ENSP00000326970.10:p.Lys238Arg
ENST00000381733.8:c.779A>G	ENSP00000371152.4:p.Lys260Arg
ENST00000518746.1:n.548A>G
ENST00000519468.5:n.560A>G
ENST00000520781.5:c.656A>G	ENSP00000427751.1:p.Lys219Arg
ENST00000521542.1:n.444A>G
NM_001127505.1:c.713A>G	NP_001120977.1:p.Lys238Arg
NM_001127505.2:c.713A>G	NP_001120977.1:p.Lys238Arg
NM_004315.4:c.779A>G	NP_004306.3:p.Lys260Arg
NM_004315.5:c.779A>G	NP_004306.3:p.Lys260Arg
NM_177924.3:c.731A>G	NP_808592.2:p.Lys244Arg
NM_177924.4:c.731A>G	NP_808592.2:p.Lys244Arg
XM_005273504.2:c.665A>G	XP_005273561.1:p.Lys222Arg
NM_001363743.1:c.536A>G	NP_001350672.1:p.Lys179Arg
XM_005273504.3:c.665A>G	XP_005273561.1:p.Lys222Arg
NM_177924.5:c.731A>G MANE Select	NP_808592.2:p.Lys244Arg
NM_001127505.3:c.713A>G	NP_001120977.1:p.Lys238Arg
NM_001363743.2:c.536A>G	NP_001350672.1:p.Lys179Arg
NM_004315.6:c.779A>G	NP_004306.3:p.Lys260Arg