Canonical Allele Identifier: CA370433961

Gene: ASAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18071339G>C , CM000670.2:g.18071339G>C	GRCh38
NC_000008.10:g.17928848G>C , CM000670.1:g.17928848G>C	GRCh37
NC_000008.9:g.17973128G>C	NCBI36
NG_008985.1:g.18660C>G
NG_008985.2:g.18660C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_177924.5:c.177C>G MANE Select	NP_808592.2:p.Tyr59Ter
ENST00000637790.2:c.177C>G MANE Select	ENSP00000490272.1:p.Tyr59Ter
NM_001127505.1:c.246C>G	NP_001120977.1:p.Tyr82Ter
NM_001127505.2:c.246C>G	NP_001120977.1:p.Tyr82Ter
NM_001127505.3:c.246C>G	NP_001120977.1:p.Tyr82Ter
NM_001363743.1:c.-19C>G	NP_001350672.1:n.-19C>G
NM_001363743.2:c.-19C>G	NP_001350672.1:n.-19C>G
NM_004315.4:c.225C>G	NP_004306.3:p.Tyr75Ter
NM_004315.5:c.225C>G	NP_004306.3:p.Tyr75Ter
NM_004315.6:c.225C>G	NP_004306.3:p.Tyr75Ter
NM_177924.3:c.177C>G	NP_808592.2:p.Tyr59Ter
NM_177924.4:c.177C>G	NP_808592.2:p.Tyr59Ter
ENST00000262097.10:c.177C>G	ENSP00000262097.6:p.Tyr59Ter
ENST00000314146.10:c.246C>G	ENSP00000326970.10:p.Tyr82Ter
ENST00000381733.8:c.225C>G	ENSP00000371152.4:p.Tyr75Ter
ENST00000381733.9:c.225C>G	ENSP00000371152.4:p.Tyr75Ter
ENST00000518087.6:n.225C>G
ENST00000518087.7:c.*13C>G	ENSP00000490753.1:n.*13C>G
ENST00000519468.5:n.183C>G
ENST00000519545.5:n.191C>G
ENST00000519545.6:n.194C>G
ENST00000520051.1:n.763C>G
ENST00000520781.5:c.177C>G	ENSP00000427751.1:p.Tyr59Ter
ENST00000520781.6:c.177C>G	ENSP00000427751.1:p.Tyr59Ter
ENST00000523593.5:n.157-4041C>G
ENST00000523593.6:c.*20C>G	ENSP00000490700.1:n.*20C>G
ENST00000635769.1:c.198C>G	ENSP00000490485.1:p.Tyr66Ter
ENST00000635944.1:c.*13C>G	ENSP00000490195.1:n.*13C>G
ENST00000635998.1:c.177C>G	ENSP00000490506.1:p.Tyr59Ter
ENST00000636009.1:c.109C>G	ENSP00000489988.1:n.109C>G
ENST00000636033.1:c.*13C>G	ENSP00000489617.1:n.*13C>G
ENST00000636050.1:c.*20C>G	ENSP00000490562.1:n.*20C>G
ENST00000636128.1:c.177C>G	ENSP00000489789.1:p.Tyr59Ter
ENST00000636160.1:c.*69C>G	ENSP00000489651.1:n.*69C>G
ENST00000636171.1:c.177C>G	ENSP00000489761.1:p.Tyr59Ter
ENST00000636269.1:c.-19C>G	ENSP00000490738.1:n.-19C>G
ENST00000636299.1:c.174-1467C>G	ENSP00000490202.1:n.174-1467C>G
ENST00000636435.1:n.261C>G
ENST00000636455.1:c.225C>G	ENSP00000490502.1:p.Tyr75Ter
ENST00000636494.1:c.126-1461C>G	ENSP00000490388.1:n.126-1461C>G
ENST00000636537.1:c.225C>G	ENSP00000489914.1:p.Tyr75Ter
ENST00000636577.1:c.177C>G	ENSP00000490027.1:p.Tyr59Ter
ENST00000636691.1:c.-19C>G	ENSP00000490725.1:n.-19C>G
ENST00000636701.1:c.126-4041C>G	ENSP00000489800.1:n.126-4041C>G
ENST00000636715.1:c.174-1461C>G	ENSP00000490876.1:n.174-1461C>G
ENST00000636815.1:c.134-1461C>G
ENST00000636823.1:c.-19C>G	ENSP00000490798.1:n.-19C>G
ENST00000636828.1:n.353C>G
ENST00000636920.1:c.*13C>G	ENSP00000490437.1:n.*13C>G
ENST00000636997.1:c.177C>G	ENSP00000490093.1:p.Tyr59Ter
ENST00000637013.1:c.*389C>G	ENSP00000490596.1:n.*389C>G
ENST00000637095.1:c.177C>G	ENSP00000490415.1:p.Tyr59Ter
ENST00000637202.1:c.126-1461C>G	ENSP00000490129.1:n.126-1461C>G
ENST00000637244.1:c.*695C>G	ENSP00000490188.1:n.*695C>G
ENST00000637429.1:c.*389C>G	ENSP00000490522.1:n.*389C>G
ENST00000637484.1:c.*214C>G	ENSP00000490837.1:n.*214C>G
ENST00000637528.1:c.177C>G	ENSP00000490801.1:p.Tyr59Ter
ENST00000637536.1:c.531C>G	ENSP00000490464.1:p.Tyr177Ter
ENST00000637561.1:c.177C>G	ENSP00000490536.1:p.Tyr59Ter
ENST00000637603.1:c.177C>G	ENSP00000489979.1:p.Tyr59Ter
ENST00000637609.1:n.210C>G
ENST00000637636.1:c.177C>G	ENSP00000490112.1:p.Tyr59Ter
ENST00000637638.1:c.177C>G	ENSP00000490774.1:p.Tyr59Ter
ENST00000637718.1:c.-19C>G	ENSP00000490133.1:n.-19C>G
ENST00000637792.1:c.225C>G	ENSP00000490423.1:p.Tyr75Ter
ENST00000637805.1:c.*13C>G	ENSP00000489884.1:n.*13C>G
ENST00000637872.1:c.-19C>G	ENSP00000490432.1:n.-19C>G
ENST00000637898.1:n.207C>G
ENST00000637922.1:c.-19C>G	ENSP00000490071.1:n.-19C>G
ENST00000637946.1:c.*626C>G	ENSP00000490025.1:n.*626C>G
ENST00000637991.1:c.225C>G	ENSP00000489901.1:p.Tyr75Ter
ENST00000638069.1:n.233C>G
XM_005273504.2:c.111C>G	XP_005273561.1:p.Tyr37Ter
XM_005273504.3:c.111C>G	XP_005273561.1:p.Tyr37Ter