Canonical Allele Identifier: CA1768026101
Gene: ASAH1 HGNC NCBI

Linked Data

dbSNP Id: rs1799870409

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18064935dup , CM000670.2:g.18064935dup GRCh38
NC_000008.10:g.17922444dup , CM000670.1:g.17922444dup GRCh37
NC_000008.9:g.17966724dup NCBI36
NG_008985.1:g.25068dup
NG_008985.2:g.25068dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000381733.9:c.431-400dup ENSP00000371152.4:n.431-400dup
ENST00000519545.6:n.400-400dup
ENST00000520781.6:c.383-1701dup ENSP00000427751.1:n.383-1701dup
ENST00000523593.6:c.*226-400dup ENSP00000490700.1:n.*226-400dup
ENST00000523744.2:n.3741dup
ENST00000635769.1:c.404-400dup ENSP00000490485.1:n.404-400dup
ENST00000635944.1:c.*219-400dup ENSP00000490195.1:n.*219-400dup
ENST00000635998.1:c.383-400dup ENSP00000490506.1:n.383-400dup
ENST00000636009.1:c.315-1701dup ENSP00000489988.1:n.315-1701dup
ENST00000636033.1:c.*219-400dup ENSP00000489617.1:n.*219-400dup
ENST00000636050.1:c.*226-400dup ENSP00000490562.1:n.*226-400dup
ENST00000636128.1:c.382+2289dup ENSP00000489789.1:n.382+2289dup
ENST00000636160.1:c.*275-400dup ENSP00000489651.1:n.*275-400dup
ENST00000636171.1:c.383-457dup ENSP00000489761.1:n.383-457dup
ENST00000636299.1:c.*154-400dup ENSP00000490202.1:n.*154-400dup
ENST00000636435.1:n.2755dup
ENST00000636455.1:c.431-400dup ENSP00000490502.1:n.431-400dup
ENST00000636494.1:c.*163-400dup ENSP00000490388.1:n.*163-400dup
ENST00000636577.1:c.383-460dup ENSP00000490027.1:n.383-460dup
ENST00000636691.1:c.188-400dup ENSP00000490725.1:n.188-400dup
ENST00000636701.1:c.*34-400dup ENSP00000489800.1:n.*34-400dup
ENST00000636815.1:c.300-400dup
ENST00000636823.1:c.188-400dup ENSP00000490798.1:n.188-400dup
ENST00000636828.1:n.2847dup
ENST00000636920.1:c.*219-400dup ENSP00000490437.1:n.*219-400dup
ENST00000636997.1:c.296-400dup ENSP00000490093.1:n.296-400dup
ENST00000637013.1:c.*595-400dup ENSP00000490596.1:n.*595-400dup
ENST00000637095.1:c.*163-400dup ENSP00000490415.1:n.*163-400dup
ENST00000637244.1:c.*901-400dup ENSP00000490188.1:n.*901-400dup
ENST00000637343.1:n.194dup
ENST00000637429.1:c.*595-400dup ENSP00000490522.1:n.*595-400dup
ENST00000637484.1:c.*420-1701dup ENSP00000490837.1:n.*420-1701dup
ENST00000637528.1:c.383-463dup ENSP00000490801.1:n.383-463dup
ENST00000637603.1:c.353-400dup ENSP00000489979.1:n.353-400dup
ENST00000637609.1:n.2704dup
ENST00000637636.1:c.377-400dup ENSP00000490112.1:n.377-400dup
ENST00000637638.1:c.383-400dup ENSP00000490774.1:n.383-400dup
ENST00000637718.1:c.188-400dup ENSP00000490133.1:n.188-400dup
ENST00000637790.2:c.383-400dup MANE Select ENSP00000490272.1:n.383-400dup
ENST00000637857.1:n.104+2289dup
ENST00000637922.1:c.188-400dup ENSP00000490071.1:n.188-400dup
ENST00000637991.1:c.431-1701dup ENSP00000489901.1:n.431-1701dup
ENST00000638069.1:n.439-400dup
ENST00000262097.10:c.383-400dup ENSP00000262097.6:n.383-400dup
ENST00000314146.10:c.365-400dup ENSP00000326970.10:n.365-400dup
ENST00000381733.8:c.431-400dup ENSP00000371152.4:n.431-400dup
ENST00000519468.5:n.388+2289dup
ENST00000519545.5:n.397-400dup
ENST00000520781.5:c.383-1701dup ENSP00000427751.1:n.383-1701dup
ENST00000523593.5:n.236-400dup
NM_001127505.1:c.365-400dup NP_001120977.1:n.365-400dup
NM_001127505.2:c.365-400dup NP_001120977.1:n.365-400dup
NM_004315.4:c.431-400dup NP_004306.3:n.431-400dup
NM_004315.5:c.431-400dup NP_004306.3:n.431-400dup
NM_177924.3:c.383-400dup NP_808592.2:n.383-400dup
NM_177924.4:c.383-400dup NP_808592.2:n.383-400dup
XM_005273504.2:c.317-400dup XP_005273561.1:n.317-400dup
NM_001363743.1:c.188-400dup NP_001350672.1:n.188-400dup
XM_005273504.3:c.317-400dup XP_005273561.1:n.317-400dup
NM_177924.5:c.383-400dup MANE Select NP_808592.2:n.383-400dup
NM_001127505.3:c.365-400dup NP_001120977.1:n.365-400dup
NM_001363743.2:c.188-400dup NP_001350672.1:n.188-400dup
NM_004315.6:c.431-400dup NP_004306.3:n.431-400dup