Canonical Allele Identifier: CA580101242

Gene: ASAH1

Linked Data

• dbSNP Id: rs1200534000
• gnomAD v2: 8-17914705-C-A
• gnomAD v3: 8-18057196-C-A
• gnomAD v4: 8-18057196-C-A
• MyVariant Identifiers: chr8:g.17914705C>A (hg19) ; chr8:g.18057196C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057196C>A , CM000670.2:g.18057196C>A	GRCh38
NC_000008.10:g.17914705C>A , CM000670.1:g.17914705C>A	GRCh37
NC_000008.9:g.17958985C>A	NCBI36
NG_008985.1:g.32803G>T
NG_008985.2:g.32803G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*338G>T	ENSP00000371152.4:n.*338G>T
ENST00000518746.2:n.3212G>T
ENST00000520781.6:c.*338G>T	ENSP00000427751.1:n.*338G>T
ENST00000635756.1:c.939G>T
ENST00000635944.1:c.*1362G>T	ENSP00000490195.1:n.*1362G>T
ENST00000635998.1:c.*239G>T	ENSP00000490506.1:n.*239G>T
ENST00000636009.1:c.1383G>T	ENSP00000489988.1:n.1383G>T
ENST00000636033.1:c.*1362G>T	ENSP00000489617.1:n.*1362G>T
ENST00000636050.1:c.*1369G>T	ENSP00000490562.1:n.*1369G>T
ENST00000636128.1:c.*338G>T	ENSP00000489789.1:n.*338G>T
ENST00000636160.1:c.*1418G>T	ENSP00000489651.1:n.*1418G>T
ENST00000636171.1:c.*338G>T	ENSP00000489761.1:n.*338G>T
ENST00000636455.1:c.*424G>T	ENSP00000490502.1:n.*424G>T
ENST00000636494.1:c.*1306G>T	ENSP00000490388.1:n.*1306G>T
ENST00000636563.1:n.1188G>T
ENST00000636577.1:c.*338G>T	ENSP00000490027.1:n.*338G>T
ENST00000636691.1:c.*338G>T	ENSP00000490725.1:n.*338G>T
ENST00000636701.1:c.*1177G>T	ENSP00000489800.1:n.*1177G>T
ENST00000636815.1:c.1443G>T
ENST00000636920.1:c.*1362G>T	ENSP00000490437.1:n.*1362G>T
ENST00000636997.1:c.*338G>T	ENSP00000490093.1:n.*338G>T
ENST00000637013.1:c.*1894G>T	ENSP00000490596.1:n.*1894G>T
ENST00000637014.1:n.1933G>T
ENST00000637095.1:c.*1306G>T	ENSP00000490415.1:n.*1306G>T
ENST00000637244.1:c.*2044G>T	ENSP00000490188.1:n.*2044G>T
ENST00000637343.1:n.2963G>T
ENST00000637429.1:c.*1738G>T	ENSP00000490522.1:n.*1738G>T
ENST00000637484.1:c.*1488G>T	ENSP00000490837.1:n.*1488G>T
ENST00000637528.1:c.*338G>T	ENSP00000490801.1:n.*338G>T
ENST00000637609.1:n.4247G>T
ENST00000637636.1:c.*338G>T	ENSP00000490112.1:n.*338G>T
ENST00000637752.1:n.1968G>T
ENST00000637790.2:c.*338G>T MANE Select	ENSP00000490272.1:n.*338G>T
ENST00000637857.1:n.1892G>T
ENST00000637922.1:c.*338G>T	ENSP00000490071.1:n.*338G>T
ENST00000637991.1:c.*338G>T	ENSP00000489901.1:n.*338G>T
ENST00000638028.1:n.1743G>T
ENST00000638069.1:n.2347G>T
ENST00000262097.10:c.*338G>T	ENSP00000262097.6:n.*338G>T
ENST00000381733.8:c.*338G>T	ENSP00000371152.4:n.*338G>T
ENST00000520781.5:c.*338G>T	ENSP00000427751.1:n.*338G>T
NM_001127505.1:c.*338G>T	NP_001120977.1:n.*338G>T
NM_001127505.2:c.*338G>T	NP_001120977.1:n.*338G>T
NM_004315.4:c.*338G>T	NP_004306.3:n.*338G>T
NM_004315.5:c.*338G>T	NP_004306.3:n.*338G>T
NM_177924.3:c.*338G>T	NP_808592.2:n.*338G>T
NM_177924.4:c.*338G>T	NP_808592.2:n.*338G>T
XM_005273504.2:c.*338G>T	XP_005273561.1:n.*338G>T
NM_001363743.1:c.*338G>T	NP_001350672.1:n.*338G>T
XM_005273504.3:c.*338G>T	XP_005273561.1:n.*338G>T
NM_177924.5:c.*338G>T MANE Select	NP_808592.2:n.*338G>T
NM_001127505.3:c.*338G>T	NP_001120977.1:n.*338G>T
NM_001363743.2:c.*338G>T	NP_001350672.1:n.*338G>T
NM_004315.6:c.*338G>T	NP_004306.3:n.*338G>T