Canonical Allele Identifier: CA370431794

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18064517-A-G
• MyVariant Identifiers: chr8:g.17922026A>G (hg19) ; chr8:g.18064517A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064517A>G , CM000670.2:g.18064517A>G	GRCh38
NC_000008.10:g.17922026A>G , CM000670.1:g.17922026A>G	GRCh37
NC_000008.9:g.17966306A>G	NCBI36
NG_008985.1:g.25482T>C
NG_008985.2:g.25482T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.445T>C	ENSP00000371152.4:p.Phe149Leu
ENST00000519545.6:n.414T>C
ENST00000520781.6:c.383-1287T>C	ENSP00000427751.1:n.383-1287T>C
ENST00000523593.6:c.*240T>C	ENSP00000490700.1:n.*240T>C
ENST00000523744.2:n.4155T>C
ENST00000635769.1:c.418T>C	ENSP00000490485.1:p.Phe140Leu
ENST00000635944.1:c.*233T>C	ENSP00000490195.1:n.*233T>C
ENST00000635998.1:c.397T>C	ENSP00000490506.1:p.Phe133Leu
ENST00000636009.1:c.315-1287T>C	ENSP00000489988.1:n.315-1287T>C
ENST00000636033.1:c.*233T>C	ENSP00000489617.1:n.*233T>C
ENST00000636050.1:c.*240T>C	ENSP00000490562.1:n.*240T>C
ENST00000636128.1:c.382+2703T>C	ENSP00000489789.1:n.382+2703T>C
ENST00000636160.1:c.*289T>C	ENSP00000489651.1:n.*289T>C
ENST00000636171.1:c.383-43T>C	ENSP00000489761.1:n.383-43T>C
ENST00000636299.1:c.*168T>C	ENSP00000490202.1:n.*168T>C
ENST00000636435.1:n.3169T>C
ENST00000636455.1:c.445T>C	ENSP00000490502.1:p.Phe149Leu
ENST00000636494.1:c.*177T>C	ENSP00000490388.1:n.*177T>C
ENST00000636563.1:n.59T>C
ENST00000636577.1:c.383-46T>C	ENSP00000490027.1:n.383-46T>C
ENST00000636691.1:c.202T>C	ENSP00000490725.1:p.Phe68Leu
ENST00000636701.1:c.*48T>C	ENSP00000489800.1:n.*48T>C
ENST00000636815.1:c.314T>C
ENST00000636823.1:c.202T>C	ENSP00000490798.1:p.Phe68Leu
ENST00000636828.1:n.3261T>C
ENST00000636920.1:c.*233T>C	ENSP00000490437.1:n.*233T>C
ENST00000636997.1:c.310T>C	ENSP00000490093.1:p.Phe104Leu
ENST00000637013.1:c.*609T>C	ENSP00000490596.1:n.*609T>C
ENST00000637095.1:c.*177T>C	ENSP00000490415.1:n.*177T>C
ENST00000637244.1:c.*915T>C	ENSP00000490188.1:n.*915T>C
ENST00000637343.1:n.608T>C
ENST00000637429.1:c.*609T>C	ENSP00000490522.1:n.*609T>C
ENST00000637484.1:c.*420-1287T>C	ENSP00000490837.1:n.*420-1287T>C
ENST00000637528.1:c.383-49T>C	ENSP00000490801.1:n.383-49T>C
ENST00000637603.1:c.367T>C	ENSP00000489979.1:p.Phe123Leu
ENST00000637609.1:n.3118T>C
ENST00000637636.1:c.391T>C	ENSP00000490112.1:p.Phe131Leu
ENST00000637638.1:c.397T>C	ENSP00000490774.1:p.Phe133Leu
ENST00000637718.1:c.202T>C	ENSP00000490133.1:p.Phe68Leu
ENST00000637790.2:c.397T>C MANE Select	ENSP00000490272.1:p.Phe133Leu
ENST00000637857.1:n.105-2094T>C
ENST00000637922.1:c.202T>C	ENSP00000490071.1:p.Phe68Leu
ENST00000637991.1:c.431-1287T>C	ENSP00000489901.1:n.431-1287T>C
ENST00000638069.1:n.453T>C
ENST00000262097.10:c.397T>C	ENSP00000262097.6:p.Phe133Leu
ENST00000314146.10:c.379T>C	ENSP00000326970.10:p.Phe127Leu
ENST00000381733.8:c.445T>C	ENSP00000371152.4:p.Phe149Leu
ENST00000519468.5:n.389-2150T>C
ENST00000519545.5:n.411T>C
ENST00000520781.5:c.383-1287T>C	ENSP00000427751.1:n.383-1287T>C
ENST00000523593.5:n.250T>C
ENST00000523744.1:n.400T>C
NM_001127505.1:c.379T>C	NP_001120977.1:p.Phe127Leu
NM_001127505.2:c.379T>C	NP_001120977.1:p.Phe127Leu
NM_004315.4:c.445T>C	NP_004306.3:p.Phe149Leu
NM_004315.5:c.445T>C	NP_004306.3:p.Phe149Leu
NM_177924.3:c.397T>C	NP_808592.2:p.Phe133Leu
NM_177924.4:c.397T>C	NP_808592.2:p.Phe133Leu
XM_005273504.2:c.331T>C	XP_005273561.1:p.Phe111Leu
NM_001363743.1:c.202T>C	NP_001350672.1:p.Phe68Leu
XM_005273504.3:c.331T>C	XP_005273561.1:p.Phe111Leu
NM_177924.5:c.397T>C MANE Select	NP_808592.2:p.Phe133Leu
NM_001127505.3:c.379T>C	NP_001120977.1:p.Phe127Leu
NM_001363743.2:c.202T>C	NP_001350672.1:p.Phe68Leu
NM_004315.6:c.445T>C	NP_004306.3:p.Phe149Leu