Canonical Allele Identifier: CA370427237

Gene: ASAH1

Linked Data

• COSMIC: COSM5358760 ; COSM5358761 ; COSM5358762
• MyVariant Identifiers: chr8:g.17916853T>G (hg19) ; chr8:g.18059344T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18059344T>G , CM000670.2:g.18059344T>G	GRCh38
NC_000008.10:g.17916853T>G , CM000670.1:g.17916853T>G	GRCh37
NC_000008.9:g.17961133T>G	NCBI36
NG_008985.1:g.30655A>C
NG_008985.2:g.30655A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.1086A>C	ENSP00000371152.4:p.Gln362His
ENST00000518746.2:n.2724A>C
ENST00000520781.6:c.963A>C	ENSP00000427751.1:p.Gln321His
ENST00000635756.1:c.451A>C
ENST00000635944.1:c.*874A>C	ENSP00000490195.1:n.*874A>C
ENST00000635998.1:c.1038A>C	ENSP00000490506.1:p.Gln346His
ENST00000636009.1:c.895A>C	ENSP00000489988.1:n.895A>C
ENST00000636033.1:c.*874A>C	ENSP00000489617.1:n.*874A>C
ENST00000636050.1:c.*881A>C	ENSP00000490562.1:n.*881A>C
ENST00000636128.1:c.717A>C	ENSP00000489789.1:p.Gln239His
ENST00000636160.1:c.*930A>C	ENSP00000489651.1:n.*930A>C
ENST00000636171.1:c.981A>C	ENSP00000489761.1:p.Gln327His
ENST00000636455.1:c.965+228A>C	ENSP00000490502.1:n.965+228A>C
ENST00000636494.1:c.*818A>C	ENSP00000490388.1:n.*818A>C
ENST00000636563.1:n.700A>C
ENST00000636577.1:c.978A>C	ENSP00000490027.1:p.Gln326His
ENST00000636691.1:c.843A>C	ENSP00000490725.1:p.Gln281His
ENST00000636701.1:c.*689A>C	ENSP00000489800.1:n.*689A>C
ENST00000636815.1:c.955A>C
ENST00000636920.1:c.*874A>C	ENSP00000490437.1:n.*874A>C
ENST00000636997.1:c.951A>C	ENSP00000490093.1:p.Gln317His
ENST00000637013.1:c.*1406A>C	ENSP00000490596.1:n.*1406A>C
ENST00000637014.1:n.1445A>C
ENST00000637095.1:c.*818A>C	ENSP00000490415.1:n.*818A>C
ENST00000637244.1:c.*1556A>C	ENSP00000490188.1:n.*1556A>C
ENST00000637343.1:n.2475A>C
ENST00000637429.1:c.*1250A>C	ENSP00000490522.1:n.*1250A>C
ENST00000637484.1:c.*1000A>C	ENSP00000490837.1:n.*1000A>C
ENST00000637528.1:c.975A>C	ENSP00000490801.1:p.Gln325His
ENST00000637609.1:n.3759A>C
ENST00000637636.1:c.1032A>C	ENSP00000490112.1:p.Gln344His
ENST00000637790.2:c.1038A>C MANE Select	ENSP00000490272.1:p.Gln346His
ENST00000637857.1:n.1404A>C
ENST00000637922.1:c.843A>C	ENSP00000490071.1:p.Gln281His
ENST00000637991.1:c.1011A>C	ENSP00000489901.1:p.Gln337His
ENST00000638028.1:n.1255A>C
ENST00000638069.1:n.1859A>C
ENST00000262097.10:c.1038A>C	ENSP00000262097.6:p.Gln346His
ENST00000314146.10:c.1020A>C	ENSP00000326970.10:p.Gln340His
ENST00000381733.8:c.1086A>C	ENSP00000371152.4:p.Gln362His
ENST00000520781.5:c.963A>C	ENSP00000427751.1:p.Gln321His
NM_001127505.1:c.1020A>C	NP_001120977.1:p.Gln340His
NM_001127505.2:c.1020A>C	NP_001120977.1:p.Gln340His
NM_004315.4:c.1086A>C	NP_004306.3:p.Gln362His
NM_004315.5:c.1086A>C	NP_004306.3:p.Gln362His
NM_177924.3:c.1038A>C	NP_808592.2:p.Gln346His
NM_177924.4:c.1038A>C	NP_808592.2:p.Gln346His
XM_005273504.2:c.972A>C	XP_005273561.1:p.Gln324His
NM_001363743.1:c.843A>C	NP_001350672.1:p.Gln281His
XM_005273504.3:c.972A>C	XP_005273561.1:p.Gln324His
NM_177924.5:c.1038A>C MANE Select	NP_808592.2:p.Gln346His
NM_001127505.3:c.1020A>C	NP_001120977.1:p.Gln340His
NM_001363743.2:c.843A>C	NP_001350672.1:p.Gln281His
NM_004315.6:c.1086A>C	NP_004306.3:p.Gln362His