Canonical Allele Identifier: CA370431687

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922007A>T (hg19) ; chr8:g.18064498A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064498A>T , CM000670.2:g.18064498A>T	GRCh38
NC_000008.10:g.17922007A>T , CM000670.1:g.17922007A>T	GRCh37
NC_000008.9:g.17966287A>T	NCBI36
NG_008985.1:g.25501T>A
NG_008985.2:g.25501T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.464T>A	ENSP00000371152.4:p.Leu155Ter
ENST00000519545.6:n.433T>A
ENST00000520781.6:c.383-1268T>A	ENSP00000427751.1:n.383-1268T>A
ENST00000523593.6:c.*259T>A	ENSP00000490700.1:n.*259T>A
ENST00000523744.2:n.4174T>A
ENST00000635769.1:c.437T>A	ENSP00000490485.1:p.Leu146Ter
ENST00000635944.1:c.*252T>A	ENSP00000490195.1:n.*252T>A
ENST00000635998.1:c.416T>A	ENSP00000490506.1:p.Leu139Ter
ENST00000636009.1:c.315-1268T>A	ENSP00000489988.1:n.315-1268T>A
ENST00000636033.1:c.*252T>A	ENSP00000489617.1:n.*252T>A
ENST00000636050.1:c.*259T>A	ENSP00000490562.1:n.*259T>A
ENST00000636128.1:c.382+2722T>A	ENSP00000489789.1:n.382+2722T>A
ENST00000636160.1:c.*308T>A	ENSP00000489651.1:n.*308T>A
ENST00000636171.1:c.383-24T>A	ENSP00000489761.1:n.383-24T>A
ENST00000636299.1:c.*187T>A	ENSP00000490202.1:n.*187T>A
ENST00000636435.1:n.3188T>A
ENST00000636455.1:c.464T>A	ENSP00000490502.1:p.Leu155Ter
ENST00000636494.1:c.*196T>A	ENSP00000490388.1:n.*196T>A
ENST00000636563.1:n.78T>A
ENST00000636577.1:c.383-27T>A	ENSP00000490027.1:n.383-27T>A
ENST00000636691.1:c.221T>A	ENSP00000490725.1:p.Leu74Ter
ENST00000636701.1:c.*67T>A	ENSP00000489800.1:n.*67T>A
ENST00000636815.1:c.333T>A
ENST00000636823.1:c.221T>A	ENSP00000490798.1:p.Leu74Ter
ENST00000636828.1:n.3280T>A
ENST00000636920.1:c.*252T>A	ENSP00000490437.1:n.*252T>A
ENST00000636997.1:c.329T>A	ENSP00000490093.1:p.Leu110Ter
ENST00000637013.1:c.*628T>A	ENSP00000490596.1:n.*628T>A
ENST00000637095.1:c.*196T>A	ENSP00000490415.1:n.*196T>A
ENST00000637244.1:c.*934T>A	ENSP00000490188.1:n.*934T>A
ENST00000637343.1:n.627T>A
ENST00000637429.1:c.*628T>A	ENSP00000490522.1:n.*628T>A
ENST00000637484.1:c.*420-1268T>A	ENSP00000490837.1:n.*420-1268T>A
ENST00000637528.1:c.383-30T>A	ENSP00000490801.1:n.383-30T>A
ENST00000637603.1:c.386T>A	ENSP00000489979.1:p.Leu129Ter
ENST00000637609.1:n.3137T>A
ENST00000637636.1:c.410T>A	ENSP00000490112.1:p.Leu137Ter
ENST00000637638.1:c.416T>A	ENSP00000490774.1:p.Leu139Ter
ENST00000637718.1:c.221T>A	ENSP00000490133.1:p.Leu74Ter
ENST00000637790.2:c.416T>A MANE Select	ENSP00000490272.1:p.Leu139Ter
ENST00000637857.1:n.105-2075T>A
ENST00000637922.1:c.221T>A	ENSP00000490071.1:p.Leu74Ter
ENST00000637991.1:c.431-1268T>A	ENSP00000489901.1:n.431-1268T>A
ENST00000638069.1:n.472T>A
ENST00000262097.10:c.416T>A	ENSP00000262097.6:p.Leu139Ter
ENST00000314146.10:c.398T>A	ENSP00000326970.10:p.Leu133Ter
ENST00000381733.8:c.464T>A	ENSP00000371152.4:p.Leu155Ter
ENST00000519468.5:n.389-2131T>A
ENST00000519545.5:n.430T>A
ENST00000520781.5:c.383-1268T>A	ENSP00000427751.1:n.383-1268T>A
ENST00000523593.5:n.269T>A
ENST00000523744.1:n.419T>A
NM_001127505.1:c.398T>A	NP_001120977.1:p.Leu133Ter
NM_001127505.2:c.398T>A	NP_001120977.1:p.Leu133Ter
NM_004315.4:c.464T>A	NP_004306.3:p.Leu155Ter
NM_004315.5:c.464T>A	NP_004306.3:p.Leu155Ter
NM_177924.3:c.416T>A	NP_808592.2:p.Leu139Ter
NM_177924.4:c.416T>A	NP_808592.2:p.Leu139Ter
XM_005273504.2:c.350T>A	XP_005273561.1:p.Leu117Ter
NM_001363743.1:c.221T>A	NP_001350672.1:p.Leu74Ter
XM_005273504.3:c.350T>A	XP_005273561.1:p.Leu117Ter
NM_177924.5:c.416T>A MANE Select	NP_808592.2:p.Leu139Ter
NM_001127505.3:c.398T>A	NP_001120977.1:p.Leu133Ter
NM_001363743.2:c.221T>A	NP_001350672.1:p.Leu74Ter
NM_004315.6:c.464T>A	NP_004306.3:p.Leu155Ter