Canonical Allele Identifier: CA370429241

Gene: ASAH1

Linked Data

• dbSNP Id: rs1166871853
• gnomAD v2: 8-17918889-G-C
• gnomAD v4: 8-18061380-G-C
• MyVariant Identifiers: chr8:g.17918889G>C (hg19) ; chr8:g.18061380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061380G>C , CM000670.2:g.18061380G>C	GRCh38
NC_000008.10:g.17918889G>C , CM000670.1:g.17918889G>C	GRCh37
NC_000008.9:g.17963169G>C	NCBI36
NG_008985.1:g.28619C>G
NG_008985.2:g.28619C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.830C>G	ENSP00000371152.4:p.Thr277Arg
ENST00000518746.2:n.2468C>G
ENST00000520781.6:c.707C>G	ENSP00000427751.1:p.Thr236Arg
ENST00000521542.2:n.90C>G
ENST00000635756.1:c.195C>G
ENST00000635944.1:c.*618C>G	ENSP00000490195.1:n.*618C>G
ENST00000635998.1:c.782C>G	ENSP00000490506.1:p.Thr261Arg
ENST00000636009.1:c.639C>G	ENSP00000489988.1:n.639C>G
ENST00000636033.1:c.*618C>G	ENSP00000489617.1:n.*618C>G
ENST00000636050.1:c.*625C>G	ENSP00000490562.1:n.*625C>G
ENST00000636128.1:c.461C>G	ENSP00000489789.1:p.Thr154Arg
ENST00000636160.1:c.*674C>G	ENSP00000489651.1:n.*674C>G
ENST00000636171.1:c.725C>G	ENSP00000489761.1:p.Thr242Arg
ENST00000636455.1:c.830C>G	ENSP00000490502.1:p.Thr277Arg
ENST00000636494.1:c.*562C>G	ENSP00000490388.1:n.*562C>G
ENST00000636563.1:n.444C>G
ENST00000636577.1:c.722C>G	ENSP00000490027.1:p.Thr241Arg
ENST00000636691.1:c.587C>G	ENSP00000490725.1:p.Thr196Arg
ENST00000636701.1:c.*433C>G	ENSP00000489800.1:n.*433C>G
ENST00000636815.1:c.699C>G
ENST00000636920.1:c.*618C>G	ENSP00000490437.1:n.*618C>G
ENST00000636997.1:c.695C>G	ENSP00000490093.1:p.Thr232Arg
ENST00000637013.1:c.*1150C>G	ENSP00000490596.1:n.*1150C>G
ENST00000637014.1:n.1189C>G
ENST00000637095.1:c.*562C>G	ENSP00000490415.1:n.*562C>G
ENST00000637244.1:c.*1300C>G	ENSP00000490188.1:n.*1300C>G
ENST00000637343.1:n.2219C>G
ENST00000637429.1:c.*994C>G	ENSP00000490522.1:n.*994C>G
ENST00000637484.1:c.*744C>G	ENSP00000490837.1:n.*744C>G
ENST00000637528.1:c.719C>G	ENSP00000490801.1:p.Thr240Arg
ENST00000637609.1:n.3503C>G
ENST00000637636.1:c.776C>G	ENSP00000490112.1:p.Thr259Arg
ENST00000637790.2:c.782C>G MANE Select	ENSP00000490272.1:p.Thr261Arg
ENST00000637857.1:n.1148C>G
ENST00000637922.1:c.587C>G	ENSP00000490071.1:p.Thr196Arg
ENST00000637991.1:c.755C>G	ENSP00000489901.1:p.Thr252Arg
ENST00000638028.1:n.999C>G
ENST00000638069.1:n.1603C>G
ENST00000262097.10:c.782C>G	ENSP00000262097.6:p.Thr261Arg
ENST00000314146.10:c.764C>G	ENSP00000326970.10:p.Thr255Arg
ENST00000381733.8:c.830C>G	ENSP00000371152.4:p.Thr277Arg
ENST00000519468.5:n.611C>G
ENST00000520781.5:c.707C>G	ENSP00000427751.1:p.Thr236Arg
ENST00000521542.1:n.495C>G
NM_001127505.1:c.764C>G	NP_001120977.1:p.Thr255Arg
NM_001127505.2:c.764C>G	NP_001120977.1:p.Thr255Arg
NM_004315.4:c.830C>G	NP_004306.3:p.Thr277Arg
NM_004315.5:c.830C>G	NP_004306.3:p.Thr277Arg
NM_177924.3:c.782C>G	NP_808592.2:p.Thr261Arg
NM_177924.4:c.782C>G	NP_808592.2:p.Thr261Arg
XM_005273504.2:c.716C>G	XP_005273561.1:p.Thr239Arg
NM_001363743.1:c.587C>G	NP_001350672.1:p.Thr196Arg
XM_005273504.3:c.716C>G	XP_005273561.1:p.Thr239Arg
NM_177924.5:c.782C>G MANE Select	NP_808592.2:p.Thr261Arg
NM_001127505.3:c.764C>G	NP_001120977.1:p.Thr255Arg
NM_001363743.2:c.587C>G	NP_001350672.1:p.Thr196Arg
NM_004315.6:c.830C>G	NP_004306.3:p.Thr277Arg