Canonical Allele Identifier: CA10625084
Gene: ASAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 362365
dbSNP Id: rs405308
gnomAD v2: 8-17914799-G-A
gnomAD v3: 8-18057290-G-A
gnomAD v4: 8-18057290-G-A

Genomic Alleles

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

Transcript Alleles

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