Canonical Allele Identifier: CA370431740

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922017A>C (hg19) ; chr8:g.18064508A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064508A>C , CM000670.2:g.18064508A>C	GRCh38
NC_000008.10:g.17922017A>C , CM000670.1:g.17922017A>C	GRCh37
NC_000008.9:g.17966297A>C	NCBI36
NG_008985.1:g.25491T>G
NG_008985.2:g.25491T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.454T>G	ENSP00000371152.4:p.Phe152Val
ENST00000519545.6:n.423T>G
ENST00000520781.6:c.383-1278T>G	ENSP00000427751.1:n.383-1278T>G
ENST00000523593.6:c.*249T>G	ENSP00000490700.1:n.*249T>G
ENST00000523744.2:n.4164T>G
ENST00000635769.1:c.427T>G	ENSP00000490485.1:p.Phe143Val
ENST00000635944.1:c.*242T>G	ENSP00000490195.1:n.*242T>G
ENST00000635998.1:c.406T>G	ENSP00000490506.1:p.Phe136Val
ENST00000636009.1:c.315-1278T>G	ENSP00000489988.1:n.315-1278T>G
ENST00000636033.1:c.*242T>G	ENSP00000489617.1:n.*242T>G
ENST00000636050.1:c.*249T>G	ENSP00000490562.1:n.*249T>G
ENST00000636128.1:c.382+2712T>G	ENSP00000489789.1:n.382+2712T>G
ENST00000636160.1:c.*298T>G	ENSP00000489651.1:n.*298T>G
ENST00000636171.1:c.383-34T>G	ENSP00000489761.1:n.383-34T>G
ENST00000636299.1:c.*177T>G	ENSP00000490202.1:n.*177T>G
ENST00000636435.1:n.3178T>G
ENST00000636455.1:c.454T>G	ENSP00000490502.1:p.Phe152Val
ENST00000636494.1:c.*186T>G	ENSP00000490388.1:n.*186T>G
ENST00000636563.1:n.68T>G
ENST00000636577.1:c.383-37T>G	ENSP00000490027.1:n.383-37T>G
ENST00000636691.1:c.211T>G	ENSP00000490725.1:p.Phe71Val
ENST00000636701.1:c.*57T>G	ENSP00000489800.1:n.*57T>G
ENST00000636815.1:c.323T>G
ENST00000636823.1:c.211T>G	ENSP00000490798.1:p.Phe71Val
ENST00000636828.1:n.3270T>G
ENST00000636920.1:c.*242T>G	ENSP00000490437.1:n.*242T>G
ENST00000636997.1:c.319T>G	ENSP00000490093.1:p.Phe107Val
ENST00000637013.1:c.*618T>G	ENSP00000490596.1:n.*618T>G
ENST00000637095.1:c.*186T>G	ENSP00000490415.1:n.*186T>G
ENST00000637244.1:c.*924T>G	ENSP00000490188.1:n.*924T>G
ENST00000637343.1:n.617T>G
ENST00000637429.1:c.*618T>G	ENSP00000490522.1:n.*618T>G
ENST00000637484.1:c.*420-1278T>G	ENSP00000490837.1:n.*420-1278T>G
ENST00000637528.1:c.383-40T>G	ENSP00000490801.1:n.383-40T>G
ENST00000637603.1:c.376T>G	ENSP00000489979.1:p.Phe126Val
ENST00000637609.1:n.3127T>G
ENST00000637636.1:c.400T>G	ENSP00000490112.1:p.Phe134Val
ENST00000637638.1:c.406T>G	ENSP00000490774.1:p.Phe136Val
ENST00000637718.1:c.211T>G	ENSP00000490133.1:p.Phe71Val
ENST00000637790.2:c.406T>G MANE Select	ENSP00000490272.1:p.Phe136Val
ENST00000637857.1:n.105-2085T>G
ENST00000637922.1:c.211T>G	ENSP00000490071.1:p.Phe71Val
ENST00000637991.1:c.431-1278T>G	ENSP00000489901.1:n.431-1278T>G
ENST00000638069.1:n.462T>G
ENST00000262097.10:c.406T>G	ENSP00000262097.6:p.Phe136Val
ENST00000314146.10:c.388T>G	ENSP00000326970.10:p.Phe130Val
ENST00000381733.8:c.454T>G	ENSP00000371152.4:p.Phe152Val
ENST00000519468.5:n.389-2141T>G
ENST00000519545.5:n.420T>G
ENST00000520781.5:c.383-1278T>G	ENSP00000427751.1:n.383-1278T>G
ENST00000523593.5:n.259T>G
ENST00000523744.1:n.409T>G
NM_001127505.1:c.388T>G	NP_001120977.1:p.Phe130Val
NM_001127505.2:c.388T>G	NP_001120977.1:p.Phe130Val
NM_004315.4:c.454T>G	NP_004306.3:p.Phe152Val
NM_004315.5:c.454T>G	NP_004306.3:p.Phe152Val
NM_177924.3:c.406T>G	NP_808592.2:p.Phe136Val
NM_177924.4:c.406T>G	NP_808592.2:p.Phe136Val
XM_005273504.2:c.340T>G	XP_005273561.1:p.Phe114Val
NM_001363743.1:c.211T>G	NP_001350672.1:p.Phe71Val
XM_005273504.3:c.340T>G	XP_005273561.1:p.Phe114Val
NM_177924.5:c.406T>G MANE Select	NP_808592.2:p.Phe136Val
NM_001127505.3:c.388T>G	NP_001120977.1:p.Phe130Val
NM_001363743.2:c.211T>G	NP_001350672.1:p.Phe71Val
NM_004315.6:c.454T>G	NP_004306.3:p.Phe152Val