Canonical Allele Identifier: CA370435935

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18084056C>G , CM000670.2:g.18084056C>G	GRCh38
NC_000008.10:g.17941565C>G , CM000670.1:g.17941565C>G	GRCh37
NC_000008.9:g.17985845C>G	NCBI36
NG_008985.1:g.5943G>C
NG_008985.2:g.5943G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.3G>C MANE Select	NP_808592.2:p.Met1Ile
ENST00000637790.2:c.3G>C MANE Select	ENSP00000490272.1:p.Met1Ile
NM_001127505.1:c.126+620G>C	NP_001120977.1:n.126+620G>C
NM_001127505.2:c.126+620G>C	NP_001120977.1:n.126+620G>C
NM_001127505.3:c.126+620G>C	NP_001120977.1:n.126+620G>C
NM_004315.4:c.126+620G>C	NP_004306.3:n.126+620G>C
NM_004315.5:c.126+620G>C	NP_004306.3:n.126+620G>C
NM_004315.6:c.126+620G>C	NP_004306.3:n.126+620G>C
NM_177924.3:c.3G>C	NP_808592.2:p.Met1Ile
NM_177924.4:c.3G>C	NP_808592.2:p.Met1Ile
ENST00000262097.10:c.3G>C	ENSP00000262097.6:p.Met1Ile
ENST00000314146.10:c.126+620G>C	ENSP00000326970.10:n.126+620G>C
ENST00000381733.8:c.126+620G>C	ENSP00000371152.4:n.126+620G>C
ENST00000381733.9:c.126+620G>C	ENSP00000371152.4:n.126+620G>C
ENST00000518087.6:n.51G>C
ENST00000518087.7:c.3G>C	ENSP00000490753.1:p.Met1Ile
ENST00000519468.5:n.9G>C
ENST00000520051.1:n.589G>C
ENST00000520051.2:c.*227G>C	ENSP00000490132.1:n.*227G>C
ENST00000520781.5:c.3G>C	ENSP00000427751.1:p.Met1Ile
ENST00000520781.6:c.3G>C	ENSP00000427751.1:p.Met1Ile
ENST00000523593.5:n.34G>C
ENST00000523593.6:c.3G>C	ENSP00000490700.1:p.Met1Ile
ENST00000635769.1:c.3G>C	ENSP00000490485.1:p.Met1Ile
ENST00000635944.1:c.3G>C	ENSP00000490195.1:p.Met1Ile
ENST00000635998.1:c.3G>C	ENSP00000490506.1:p.Met1Ile
ENST00000636033.1:c.3G>C	ENSP00000489617.1:p.Met1Ile
ENST00000636050.1:c.215+531G>C	ENSP00000490562.1:n.215+531G>C
ENST00000636128.1:c.3G>C	ENSP00000489789.1:p.Met1Ile
ENST00000636160.1:c.3G>C	ENSP00000489651.1:p.Met1Ile
ENST00000636171.1:c.3G>C	ENSP00000489761.1:p.Met1Ile
ENST00000636299.1:c.126+620G>C	ENSP00000490202.1:n.126+620G>C
ENST00000636435.1:n.87G>C
ENST00000636455.1:c.126+620G>C	ENSP00000490502.1:n.126+620G>C
ENST00000636494.1:c.3G>C	ENSP00000490388.1:p.Met1Ile
ENST00000636537.1:c.126+620G>C	ENSP00000489914.1:n.126+620G>C
ENST00000636577.1:c.3G>C	ENSP00000490027.1:p.Met1Ile
ENST00000636701.1:c.3G>C	ENSP00000489800.1:p.Met1Ile
ENST00000636715.1:c.126+620G>C	ENSP00000490876.1:n.126+620G>C
ENST00000636828.1:n.254+620G>C
ENST00000636920.1:c.3G>C	ENSP00000490437.1:p.Met1Ile
ENST00000636997.1:c.3G>C	ENSP00000490093.1:p.Met1Ile
ENST00000637013.1:c.*290+231G>C	ENSP00000490596.1:n.*290+231G>C
ENST00000637095.1:c.3G>C	ENSP00000490415.1:p.Met1Ile
ENST00000637202.1:c.3G>C	ENSP00000490129.1:p.Met1Ile
ENST00000637244.1:c.*521G>C	ENSP00000490188.1:n.*521G>C
ENST00000637429.1:c.*290+231G>C	ENSP00000490522.1:n.*290+231G>C
ENST00000637484.1:c.*115+406G>C	ENSP00000490837.1:n.*115+406G>C
ENST00000637528.1:c.3G>C	ENSP00000490801.1:p.Met1Ile
ENST00000637536.1:c.357G>C	ENSP00000490464.1:p.Met119Ile
ENST00000637561.1:c.3G>C	ENSP00000490536.1:p.Met1Ile
ENST00000637603.1:c.3G>C	ENSP00000489979.1:p.Met1Ile
ENST00000637609.1:n.36G>C
ENST00000637636.1:c.3G>C	ENSP00000490112.1:p.Met1Ile
ENST00000637638.1:c.3G>C	ENSP00000490774.1:p.Met1Ile
ENST00000637792.1:c.126+620G>C	ENSP00000490423.1:n.126+620G>C
ENST00000637805.1:c.130+616G>C	ENSP00000489884.1:n.130+616G>C
ENST00000637898.1:n.33G>C
ENST00000637946.1:c.*290+231G>C	ENSP00000490025.1:n.*290+231G>C
ENST00000637991.1:c.126+620G>C	ENSP00000489901.1:n.126+620G>C
ENST00000638069.1:n.59G>C
XM_005273504.2:c.-128G>C	XP_005273561.1:n.-128G>C
XM_005273504.3:c.-128G>C	XP_005273561.1:n.-128G>C