Canonical Allele Identifier: CA370429303

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799693122
• MyVariant Identifiers: chr8:g.17918907G>C (hg19) ; chr8:g.18061398G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061398G>C , CM000670.2:g.18061398G>C	GRCh38
NC_000008.10:g.17918907G>C , CM000670.1:g.17918907G>C	GRCh37
NC_000008.9:g.17963187G>C	NCBI36
NG_008985.1:g.28601C>G
NG_008985.2:g.28601C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.812C>G	ENSP00000371152.4:p.Thr271Arg
ENST00000517409.2:n.732C>G
ENST00000518746.2:n.2450C>G
ENST00000520781.6:c.689C>G	ENSP00000427751.1:p.Thr230Arg
ENST00000521542.2:n.72C>G
ENST00000635756.1:c.177C>G
ENST00000635944.1:c.*600C>G	ENSP00000490195.1:n.*600C>G
ENST00000635998.1:c.764C>G	ENSP00000490506.1:p.Thr255Arg
ENST00000636009.1:c.621C>G	ENSP00000489988.1:n.621C>G
ENST00000636033.1:c.*600C>G	ENSP00000489617.1:n.*600C>G
ENST00000636050.1:c.*607C>G	ENSP00000490562.1:n.*607C>G
ENST00000636128.1:c.443C>G	ENSP00000489789.1:p.Thr148Arg
ENST00000636160.1:c.*656C>G	ENSP00000489651.1:n.*656C>G
ENST00000636171.1:c.707C>G	ENSP00000489761.1:p.Thr236Arg
ENST00000636455.1:c.812C>G	ENSP00000490502.1:p.Thr271Arg
ENST00000636494.1:c.*544C>G	ENSP00000490388.1:n.*544C>G
ENST00000636563.1:n.426C>G
ENST00000636577.1:c.704C>G	ENSP00000490027.1:p.Thr235Arg
ENST00000636691.1:c.569C>G	ENSP00000490725.1:p.Thr190Arg
ENST00000636701.1:c.*415C>G	ENSP00000489800.1:n.*415C>G
ENST00000636815.1:c.681C>G
ENST00000636920.1:c.*600C>G	ENSP00000490437.1:n.*600C>G
ENST00000636997.1:c.677C>G	ENSP00000490093.1:p.Thr226Arg
ENST00000637013.1:c.*1132C>G	ENSP00000490596.1:n.*1132C>G
ENST00000637014.1:n.1171C>G
ENST00000637095.1:c.*544C>G	ENSP00000490415.1:n.*544C>G
ENST00000637244.1:c.*1282C>G	ENSP00000490188.1:n.*1282C>G
ENST00000637343.1:n.2201C>G
ENST00000637429.1:c.*976C>G	ENSP00000490522.1:n.*976C>G
ENST00000637484.1:c.*726C>G	ENSP00000490837.1:n.*726C>G
ENST00000637528.1:c.701C>G	ENSP00000490801.1:p.Thr234Arg
ENST00000637609.1:n.3485C>G
ENST00000637636.1:c.758C>G	ENSP00000490112.1:p.Thr253Arg
ENST00000637790.2:c.764C>G MANE Select	ENSP00000490272.1:p.Thr255Arg
ENST00000637857.1:n.1130C>G
ENST00000637922.1:c.569C>G	ENSP00000490071.1:p.Thr190Arg
ENST00000637991.1:c.737C>G	ENSP00000489901.1:p.Thr246Arg
ENST00000638028.1:n.981C>G
ENST00000638069.1:n.1585C>G
ENST00000262097.10:c.764C>G	ENSP00000262097.6:p.Thr255Arg
ENST00000314146.10:c.746C>G	ENSP00000326970.10:p.Thr249Arg
ENST00000381733.8:c.812C>G	ENSP00000371152.4:p.Thr271Arg
ENST00000519468.5:n.593C>G
ENST00000520781.5:c.689C>G	ENSP00000427751.1:p.Thr230Arg
ENST00000521542.1:n.477C>G
NM_001127505.1:c.746C>G	NP_001120977.1:p.Thr249Arg
NM_001127505.2:c.746C>G	NP_001120977.1:p.Thr249Arg
NM_004315.4:c.812C>G	NP_004306.3:p.Thr271Arg
NM_004315.5:c.812C>G	NP_004306.3:p.Thr271Arg
NM_177924.3:c.764C>G	NP_808592.2:p.Thr255Arg
NM_177924.4:c.764C>G	NP_808592.2:p.Thr255Arg
XM_005273504.2:c.698C>G	XP_005273561.1:p.Thr233Arg
NM_001363743.1:c.569C>G	NP_001350672.1:p.Thr190Arg
XM_005273504.3:c.698C>G	XP_005273561.1:p.Thr233Arg
NM_177924.5:c.764C>G MANE Select	NP_808592.2:p.Thr255Arg
NM_001127505.3:c.746C>G	NP_001120977.1:p.Thr249Arg
NM_001363743.2:c.569C>G	NP_001350672.1:p.Thr190Arg
NM_004315.6:c.812C>G	NP_004306.3:p.Thr271Arg