Canonical Allele Identifier: CA459663605

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922018A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064509A>T , CM000670.2:g.18064509A>T	GRCh38
NC_000008.10:g.17922018A>T , CM000670.1:g.17922018A>T	GRCh37
NC_000008.9:g.17966298A>T	NCBI36
NG_008985.1:g.25490T>A
NG_008985.2:g.25490T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.453T>A	ENSP00000371152.4:p.Ile151=
ENST00000519545.6:n.422T>A
ENST00000520781.6:c.383-1279T>A	ENSP00000427751.1:n.383-1279T>A
ENST00000523593.6:c.*248T>A	ENSP00000490700.1:n.*248T>A
ENST00000523744.2:n.4163T>A
ENST00000635769.1:c.426T>A	ENSP00000490485.1:p.Ile142=
ENST00000635944.1:c.*241T>A	ENSP00000490195.1:n.*241T>A
ENST00000635998.1:c.405T>A	ENSP00000490506.1:p.Ile135=
ENST00000636009.1:c.315-1279T>A	ENSP00000489988.1:n.315-1279T>A
ENST00000636033.1:c.*241T>A	ENSP00000489617.1:n.*241T>A
ENST00000636050.1:c.*248T>A	ENSP00000490562.1:n.*248T>A
ENST00000636128.1:c.382+2711T>A	ENSP00000489789.1:n.382+2711T>A
ENST00000636160.1:c.*297T>A	ENSP00000489651.1:n.*297T>A
ENST00000636171.1:c.383-35T>A	ENSP00000489761.1:n.383-35T>A
ENST00000636299.1:c.*176T>A	ENSP00000490202.1:n.*176T>A
ENST00000636435.1:n.3177T>A
ENST00000636455.1:c.453T>A	ENSP00000490502.1:p.Ile151=
ENST00000636494.1:c.*185T>A	ENSP00000490388.1:n.*185T>A
ENST00000636563.1:n.67T>A
ENST00000636577.1:c.383-38T>A	ENSP00000490027.1:n.383-38T>A
ENST00000636691.1:c.210T>A	ENSP00000490725.1:p.Ile70=
ENST00000636701.1:c.*56T>A	ENSP00000489800.1:n.*56T>A
ENST00000636815.1:c.322T>A
ENST00000636823.1:c.210T>A	ENSP00000490798.1:p.Ile70=
ENST00000636828.1:n.3269T>A
ENST00000636920.1:c.*241T>A	ENSP00000490437.1:n.*241T>A
ENST00000636997.1:c.318T>A	ENSP00000490093.1:p.Ile106=
ENST00000637013.1:c.*617T>A	ENSP00000490596.1:n.*617T>A
ENST00000637095.1:c.*185T>A	ENSP00000490415.1:n.*185T>A
ENST00000637244.1:c.*923T>A	ENSP00000490188.1:n.*923T>A
ENST00000637343.1:n.616T>A
ENST00000637429.1:c.*617T>A	ENSP00000490522.1:n.*617T>A
ENST00000637484.1:c.*420-1279T>A	ENSP00000490837.1:n.*420-1279T>A
ENST00000637528.1:c.383-41T>A	ENSP00000490801.1:n.383-41T>A
ENST00000637603.1:c.375T>A	ENSP00000489979.1:p.Ile125=
ENST00000637609.1:n.3126T>A
ENST00000637636.1:c.399T>A	ENSP00000490112.1:p.Ile133=
ENST00000637638.1:c.405T>A	ENSP00000490774.1:p.Ile135=
ENST00000637718.1:c.210T>A	ENSP00000490133.1:p.Ile70=
ENST00000637790.2:c.405T>A MANE Select	ENSP00000490272.1:p.Ile135=
ENST00000637857.1:n.105-2086T>A
ENST00000637922.1:c.210T>A	ENSP00000490071.1:p.Ile70=
ENST00000637991.1:c.431-1279T>A	ENSP00000489901.1:n.431-1279T>A
ENST00000638069.1:n.461T>A
ENST00000262097.10:c.405T>A	ENSP00000262097.6:p.Ile135=
ENST00000314146.10:c.387T>A	ENSP00000326970.10:p.Ile129=
ENST00000381733.8:c.453T>A	ENSP00000371152.4:p.Ile151=
ENST00000519468.5:n.389-2142T>A
ENST00000519545.5:n.419T>A
ENST00000520781.5:c.383-1279T>A	ENSP00000427751.1:n.383-1279T>A
ENST00000523593.5:n.258T>A
ENST00000523744.1:n.408T>A
NM_001127505.1:c.387T>A	NP_001120977.1:p.Ile129=
NM_001127505.2:c.387T>A	NP_001120977.1:p.Ile129=
NM_004315.4:c.453T>A	NP_004306.3:p.Ile151=
NM_004315.5:c.453T>A	NP_004306.3:p.Ile151=
NM_177924.3:c.405T>A	NP_808592.2:p.Ile135=
NM_177924.4:c.405T>A	NP_808592.2:p.Ile135=
XM_005273504.2:c.339T>A	XP_005273561.1:p.Ile113=
NM_001363743.1:c.210T>A	NP_001350672.1:p.Ile70=
XM_005273504.3:c.339T>A	XP_005273561.1:p.Ile113=
NM_177924.5:c.405T>A MANE Select	NP_808592.2:p.Ile135=
NM_001127505.3:c.387T>A	NP_001120977.1:p.Ile129=
NM_001363743.2:c.210T>A	NP_001350672.1:p.Ile70=
NM_004315.6:c.453T>A	NP_004306.3:p.Ile151=