Canonical Allele Identifier: CA2686311538

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18057291-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057291T>G , CM000670.2:g.18057291T>G	GRCh38
NC_000008.10:g.17914800T>G , CM000670.1:g.17914800T>G	GRCh37
NC_000008.9:g.17959080T>G	NCBI36
NG_008985.1:g.32708A>C
NG_008985.2:g.32708A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*243A>C	ENSP00000371152.4:n.*243A>C
ENST00000518746.2:n.3117A>C
ENST00000520781.6:c.*243A>C	ENSP00000427751.1:n.*243A>C
ENST00000635756.1:c.844A>C
ENST00000635944.1:c.*1267A>C	ENSP00000490195.1:n.*1267A>C
ENST00000635998.1:c.*144A>C	ENSP00000490506.1:n.*144A>C
ENST00000636009.1:c.1288A>C	ENSP00000489988.1:n.1288A>C
ENST00000636033.1:c.*1267A>C	ENSP00000489617.1:n.*1267A>C
ENST00000636050.1:c.*1274A>C	ENSP00000490562.1:n.*1274A>C
ENST00000636128.1:c.*243A>C	ENSP00000489789.1:n.*243A>C
ENST00000636160.1:c.*1323A>C	ENSP00000489651.1:n.*1323A>C
ENST00000636171.1:c.*243A>C	ENSP00000489761.1:n.*243A>C
ENST00000636455.1:c.*329A>C	ENSP00000490502.1:n.*329A>C
ENST00000636494.1:c.*1211A>C	ENSP00000490388.1:n.*1211A>C
ENST00000636563.1:n.1093A>C
ENST00000636577.1:c.*243A>C	ENSP00000490027.1:n.*243A>C
ENST00000636691.1:c.*243A>C	ENSP00000490725.1:n.*243A>C
ENST00000636701.1:c.*1082A>C	ENSP00000489800.1:n.*1082A>C
ENST00000636815.1:c.1348A>C
ENST00000636920.1:c.*1267A>C	ENSP00000490437.1:n.*1267A>C
ENST00000636997.1:c.*243A>C	ENSP00000490093.1:n.*243A>C
ENST00000637013.1:c.*1799A>C	ENSP00000490596.1:n.*1799A>C
ENST00000637014.1:n.1838A>C
ENST00000637095.1:c.*1211A>C	ENSP00000490415.1:n.*1211A>C
ENST00000637244.1:c.*1949A>C	ENSP00000490188.1:n.*1949A>C
ENST00000637343.1:n.2868A>C
ENST00000637429.1:c.*1643A>C	ENSP00000490522.1:n.*1643A>C
ENST00000637484.1:c.*1393A>C	ENSP00000490837.1:n.*1393A>C
ENST00000637528.1:c.*243A>C	ENSP00000490801.1:n.*243A>C
ENST00000637609.1:n.4152A>C
ENST00000637636.1:c.*243A>C	ENSP00000490112.1:n.*243A>C
ENST00000637752.1:n.1873A>C
ENST00000637790.2:c.*243A>C MANE Select	ENSP00000490272.1:n.*243A>C
ENST00000637857.1:n.1797A>C
ENST00000637922.1:c.*243A>C	ENSP00000490071.1:n.*243A>C
ENST00000637991.1:c.*243A>C	ENSP00000489901.1:n.*243A>C
ENST00000638028.1:n.1648A>C
ENST00000638069.1:n.2252A>C
ENST00000262097.10:c.*243A>C	ENSP00000262097.6:n.*243A>C
ENST00000314146.10:c.*243A>C	ENSP00000326970.10:n.*243A>C
ENST00000381733.8:c.*243A>C	ENSP00000371152.4:n.*243A>C
ENST00000520781.5:c.*243A>C	ENSP00000427751.1:n.*243A>C
NM_001127505.1:c.*243A>C	NP_001120977.1:n.*243A>C
NM_001127505.2:c.*243A>C	NP_001120977.1:n.*243A>C
NM_004315.4:c.*243A>C	NP_004306.3:n.*243A>C
NM_004315.5:c.*243A>C	NP_004306.3:n.*243A>C
NM_177924.3:c.*243A>C	NP_808592.2:n.*243A>C
NM_177924.4:c.*243A>C	NP_808592.2:n.*243A>C
XM_005273504.2:c.*243A>C	XP_005273561.1:n.*243A>C
NM_001363743.1:c.*243A>C	NP_001350672.1:n.*243A>C
XM_005273504.3:c.*243A>C	XP_005273561.1:n.*243A>C
NM_177924.5:c.*243A>C MANE Select	NP_808592.2:n.*243A>C
NM_001127505.3:c.*243A>C	NP_001120977.1:n.*243A>C
NM_001363743.2:c.*243A>C	NP_001350672.1:n.*243A>C
NM_004315.6:c.*243A>C	NP_004306.3:n.*243A>C