Canonical Allele Identifier: CA580101249

Gene: ASAH1

Linked Data

• dbSNP Id: rs405308
• gnomAD v2: 8-17914799-G-C
• gnomAD v3: 8-18057290-G-C
• gnomAD v4: 8-18057290-G-C
• MyVariant Identifiers: chr8:g.17914799G>C (hg19) ; chr8:g.18057290G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18057290G>C , CM000670.2:g.18057290G>C	GRCh38
NC_000008.10:g.17914799G>C , CM000670.1:g.17914799G>C	GRCh37
NC_000008.9:g.17959079G>C	NCBI36
NG_008985.1:g.32709C>G
NG_008985.2:g.32709C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.*244C>G	ENSP00000371152.4:n.*244C>G
ENST00000518746.2:n.3118C>G
ENST00000520781.6:c.*244C>G	ENSP00000427751.1:n.*244C>G
ENST00000635756.1:c.845C>G
ENST00000635944.1:c.*1268C>G	ENSP00000490195.1:n.*1268C>G
ENST00000635998.1:c.*145C>G	ENSP00000490506.1:n.*145C>G
ENST00000636009.1:c.1289C>G	ENSP00000489988.1:n.1289C>G
ENST00000636033.1:c.*1268C>G	ENSP00000489617.1:n.*1268C>G
ENST00000636050.1:c.*1275C>G	ENSP00000490562.1:n.*1275C>G
ENST00000636128.1:c.*244C>G	ENSP00000489789.1:n.*244C>G
ENST00000636160.1:c.*1324C>G	ENSP00000489651.1:n.*1324C>G
ENST00000636171.1:c.*244C>G	ENSP00000489761.1:n.*244C>G
ENST00000636455.1:c.*330C>G	ENSP00000490502.1:n.*330C>G
ENST00000636494.1:c.*1212C>G	ENSP00000490388.1:n.*1212C>G
ENST00000636563.1:n.1094C>G
ENST00000636577.1:c.*244C>G	ENSP00000490027.1:n.*244C>G
ENST00000636691.1:c.*244C>G	ENSP00000490725.1:n.*244C>G
ENST00000636701.1:c.*1083C>G	ENSP00000489800.1:n.*1083C>G
ENST00000636815.1:c.1349C>G
ENST00000636920.1:c.*1268C>G	ENSP00000490437.1:n.*1268C>G
ENST00000636997.1:c.*244C>G	ENSP00000490093.1:n.*244C>G
ENST00000637013.1:c.*1800C>G	ENSP00000490596.1:n.*1800C>G
ENST00000637014.1:n.1839C>G
ENST00000637095.1:c.*1212C>G	ENSP00000490415.1:n.*1212C>G
ENST00000637244.1:c.*1950C>G	ENSP00000490188.1:n.*1950C>G
ENST00000637343.1:n.2869C>G
ENST00000637429.1:c.*1644C>G	ENSP00000490522.1:n.*1644C>G
ENST00000637484.1:c.*1394C>G	ENSP00000490837.1:n.*1394C>G
ENST00000637528.1:c.*244C>G	ENSP00000490801.1:n.*244C>G
ENST00000637609.1:n.4153C>G
ENST00000637636.1:c.*244C>G	ENSP00000490112.1:n.*244C>G
ENST00000637752.1:n.1874C>G
ENST00000637790.2:c.*244C>G MANE Select	ENSP00000490272.1:n.*244C>G
ENST00000637857.1:n.1798C>G
ENST00000637922.1:c.*244C>G	ENSP00000490071.1:n.*244C>G
ENST00000637991.1:c.*244C>G	ENSP00000489901.1:n.*244C>G
ENST00000638028.1:n.1649C>G
ENST00000638069.1:n.2253C>G
ENST00000262097.10:c.*244C>G	ENSP00000262097.6:n.*244C>G
ENST00000314146.10:c.*244C>G	ENSP00000326970.10:n.*244C>G
ENST00000381733.8:c.*244C>G	ENSP00000371152.4:n.*244C>G
ENST00000520781.5:c.*244C>G	ENSP00000427751.1:n.*244C>G
NM_001127505.1:c.*244C>G	NP_001120977.1:n.*244C>G
NM_001127505.2:c.*244C>G	NP_001120977.1:n.*244C>G
NM_004315.4:c.*244C>G	NP_004306.3:n.*244C>G
NM_004315.5:c.*244C>G	NP_004306.3:n.*244C>G
NM_177924.3:c.*244C>G	NP_808592.2:n.*244C>G
NM_177924.4:c.*244C>G	NP_808592.2:n.*244C>G
XM_005273504.2:c.*244C>G	XP_005273561.1:n.*244C>G
NM_001363743.1:c.*244C>G	NP_001350672.1:n.*244C>G
XM_005273504.3:c.*244C>G	XP_005273561.1:n.*244C>G
NM_177924.5:c.*244C>G MANE Select	NP_808592.2:n.*244C>G
NM_001127505.3:c.*244C>G	NP_001120977.1:n.*244C>G
NM_001363743.2:c.*244C>G	NP_001350672.1:n.*244C>G
NM_004315.6:c.*244C>G	NP_004306.3:n.*244C>G