Canonical Allele Identifier: CA1768013025

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799505181

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057204G>C , CM000670.2:g.18057204G>C	GRCh38
NC_000008.10:g.17914713G>C , CM000670.1:g.17914713G>C	GRCh37
NC_000008.9:g.17958993G>C	NCBI36
NG_008985.1:g.32795C>G
NG_008985.2:g.32795C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*330C>G	ENSP00000371152.4:n.*330C>G
ENST00000518746.2:n.3204C>G
ENST00000520781.6:c.*330C>G	ENSP00000427751.1:n.*330C>G
ENST00000635756.1:c.931C>G
ENST00000635944.1:c.*1354C>G	ENSP00000490195.1:n.*1354C>G
ENST00000635998.1:c.*231C>G	ENSP00000490506.1:n.*231C>G
ENST00000636009.1:c.1375C>G	ENSP00000489988.1:n.1375C>G
ENST00000636033.1:c.*1354C>G	ENSP00000489617.1:n.*1354C>G
ENST00000636050.1:c.*1361C>G	ENSP00000490562.1:n.*1361C>G
ENST00000636128.1:c.*330C>G	ENSP00000489789.1:n.*330C>G
ENST00000636160.1:c.*1410C>G	ENSP00000489651.1:n.*1410C>G
ENST00000636171.1:c.*330C>G	ENSP00000489761.1:n.*330C>G
ENST00000636455.1:c.*416C>G	ENSP00000490502.1:n.*416C>G
ENST00000636494.1:c.*1298C>G	ENSP00000490388.1:n.*1298C>G
ENST00000636563.1:n.1180C>G
ENST00000636577.1:c.*330C>G	ENSP00000490027.1:n.*330C>G
ENST00000636691.1:c.*330C>G	ENSP00000490725.1:n.*330C>G
ENST00000636701.1:c.*1169C>G	ENSP00000489800.1:n.*1169C>G
ENST00000636815.1:c.1435C>G
ENST00000636920.1:c.*1354C>G	ENSP00000490437.1:n.*1354C>G
ENST00000636997.1:c.*330C>G	ENSP00000490093.1:n.*330C>G
ENST00000637013.1:c.*1886C>G	ENSP00000490596.1:n.*1886C>G
ENST00000637014.1:n.1925C>G
ENST00000637095.1:c.*1298C>G	ENSP00000490415.1:n.*1298C>G
ENST00000637244.1:c.*2036C>G	ENSP00000490188.1:n.*2036C>G
ENST00000637343.1:n.2955C>G
ENST00000637429.1:c.*1730C>G	ENSP00000490522.1:n.*1730C>G
ENST00000637484.1:c.*1480C>G	ENSP00000490837.1:n.*1480C>G
ENST00000637528.1:c.*330C>G	ENSP00000490801.1:n.*330C>G
ENST00000637609.1:n.4239C>G
ENST00000637636.1:c.*330C>G	ENSP00000490112.1:n.*330C>G
ENST00000637752.1:n.1960C>G
ENST00000637790.2:c.*330C>G MANE Select	ENSP00000490272.1:n.*330C>G
ENST00000637857.1:n.1884C>G
ENST00000637922.1:c.*330C>G	ENSP00000490071.1:n.*330C>G
ENST00000637991.1:c.*330C>G	ENSP00000489901.1:n.*330C>G
ENST00000638028.1:n.1735C>G
ENST00000638069.1:n.2339C>G
ENST00000262097.10:c.*330C>G	ENSP00000262097.6:n.*330C>G
ENST00000314146.10:c.*330C>G	ENSP00000326970.10:n.*330C>G
ENST00000381733.8:c.*330C>G	ENSP00000371152.4:n.*330C>G
ENST00000520781.5:c.*330C>G	ENSP00000427751.1:n.*330C>G
NM_001127505.1:c.*330C>G	NP_001120977.1:n.*330C>G
NM_001127505.2:c.*330C>G	NP_001120977.1:n.*330C>G
NM_004315.4:c.*330C>G	NP_004306.3:n.*330C>G
NM_004315.5:c.*330C>G	NP_004306.3:n.*330C>G
NM_177924.3:c.*330C>G	NP_808592.2:n.*330C>G
NM_177924.4:c.*330C>G	NP_808592.2:n.*330C>G
XM_005273504.2:c.*330C>G	XP_005273561.1:n.*330C>G
NM_001363743.1:c.*330C>G	NP_001350672.1:n.*330C>G
XM_005273504.3:c.*330C>G	XP_005273561.1:n.*330C>G
NM_177924.5:c.*330C>G MANE Select	NP_808592.2:n.*330C>G
NM_001127505.3:c.*330C>G	NP_001120977.1:n.*330C>G
NM_001363743.2:c.*330C>G	NP_001350672.1:n.*330C>G
NM_004315.6:c.*330C>G	NP_004306.3:n.*330C>G