Canonical Allele Identifier: CA1768025958
Gene: ASAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.18064819G= , CM000670.2:g.18064819G= GRCh38
NC_000008.10:g.17922328G= , CM000670.1:g.17922328G= GRCh37
NC_000008.9:g.17966608G= NCBI36
NG_008985.1:g.25180C=
NG_008985.2:g.25180C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000381733.9:c.431-288C= ENSP00000371152.4:n.431-288C=
ENST00000519545.6:n.400-288C=
ENST00000520781.6:c.383-1589C= ENSP00000427751.1:n.383-1589C=
ENST00000523593.6:c.*226-288C= ENSP00000490700.1:n.*226-288C=
ENST00000523744.2:n.3853C=
ENST00000635769.1:c.404-288C= ENSP00000490485.1:n.404-288C=
ENST00000635944.1:c.*219-288C= ENSP00000490195.1:n.*219-288C=
ENST00000635998.1:c.383-288C= ENSP00000490506.1:n.383-288C=
ENST00000636009.1:c.315-1589C= ENSP00000489988.1:n.315-1589C=
ENST00000636033.1:c.*219-288C= ENSP00000489617.1:n.*219-288C=
ENST00000636050.1:c.*226-288C= ENSP00000490562.1:n.*226-288C=
ENST00000636128.1:c.382+2401C= ENSP00000489789.1:n.382+2401C=
ENST00000636160.1:c.*275-288C= ENSP00000489651.1:n.*275-288C=
ENST00000636171.1:c.383-345C= ENSP00000489761.1:n.383-345C=
ENST00000636299.1:c.*154-288C= ENSP00000490202.1:n.*154-288C=
ENST00000636435.1:n.2867C=
ENST00000636455.1:c.431-288C= ENSP00000490502.1:n.431-288C=
ENST00000636494.1:c.*163-288C= ENSP00000490388.1:n.*163-288C=
ENST00000636577.1:c.383-348C= ENSP00000490027.1:n.383-348C=
ENST00000636691.1:c.188-288C= ENSP00000490725.1:n.188-288C=
ENST00000636701.1:c.*34-288C= ENSP00000489800.1:n.*34-288C=
ENST00000636815.1:c.300-288C=
ENST00000636823.1:c.188-288C= ENSP00000490798.1:n.188-288C=
ENST00000636828.1:n.2959C=
ENST00000636920.1:c.*219-288C= ENSP00000490437.1:n.*219-288C=
ENST00000636997.1:c.296-288C= ENSP00000490093.1:n.296-288C=
ENST00000637013.1:c.*595-288C= ENSP00000490596.1:n.*595-288C=
ENST00000637095.1:c.*163-288C= ENSP00000490415.1:n.*163-288C=
ENST00000637244.1:c.*901-288C= ENSP00000490188.1:n.*901-288C=
ENST00000637343.1:n.306C=
ENST00000637429.1:c.*595-288C= ENSP00000490522.1:n.*595-288C=
ENST00000637484.1:c.*420-1589C= ENSP00000490837.1:n.*420-1589C=
ENST00000637528.1:c.383-351C= ENSP00000490801.1:n.383-351C=
ENST00000637603.1:c.353-288C= ENSP00000489979.1:n.353-288C=
ENST00000637609.1:n.2816C=
ENST00000637636.1:c.377-288C= ENSP00000490112.1:n.377-288C=
ENST00000637638.1:c.383-288C= ENSP00000490774.1:n.383-288C=
ENST00000637718.1:c.188-288C= ENSP00000490133.1:n.188-288C=
ENST00000637790.2:c.383-288C= MANE Select ENSP00000490272.1:n.383-288C=
ENST00000637857.1:n.105-2396C=
ENST00000637922.1:c.188-288C= ENSP00000490071.1:n.188-288C=
ENST00000637991.1:c.431-1589C= ENSP00000489901.1:n.431-1589C=
ENST00000638069.1:n.439-288C=
ENST00000262097.10:c.383-288C= ENSP00000262097.6:n.383-288C=
ENST00000314146.10:c.365-288C= ENSP00000326970.10:n.365-288C=
ENST00000381733.8:c.431-288C= ENSP00000371152.4:n.431-288C=
ENST00000519468.5:n.388+2401C=
ENST00000519545.5:n.397-288C=
ENST00000520781.5:c.383-1589C= ENSP00000427751.1:n.383-1589C=
ENST00000523593.5:n.236-288C=
ENST00000523744.1:n.98C=
NM_001127505.1:c.365-288C= NP_001120977.1:n.365-288C=
NM_001127505.2:c.365-288C= NP_001120977.1:n.365-288C=
NM_004315.4:c.431-288C= NP_004306.3:n.431-288C=
NM_004315.5:c.431-288C= NP_004306.3:n.431-288C=
NM_177924.3:c.383-288C= NP_808592.2:n.383-288C=
NM_177924.4:c.383-288C= NP_808592.2:n.383-288C=
XM_005273504.2:c.317-288C= XP_005273561.1:n.317-288C=
NM_001363743.1:c.188-288C= NP_001350672.1:n.188-288C=
XM_005273504.3:c.317-288C= XP_005273561.1:n.317-288C=
NM_177924.5:c.383-288C= MANE Select NP_808592.2:n.383-288C=
NM_001127505.3:c.365-288C= NP_001120977.1:n.365-288C=
NM_001363743.2:c.188-288C= NP_001350672.1:n.188-288C=
NM_004315.6:c.431-288C= NP_004306.3:n.431-288C=