Canonical Allele Identifier: CA370431817

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922031A>G (hg19) ; chr8:g.18064522A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064522A>G , CM000670.2:g.18064522A>G	GRCh38
NC_000008.10:g.17922031A>G , CM000670.1:g.17922031A>G	GRCh37
NC_000008.9:g.17966311A>G	NCBI36
NG_008985.1:g.25477T>C
NG_008985.2:g.25477T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.440T>C	ENSP00000371152.4:p.Ile147Thr
ENST00000519545.6:n.409T>C
ENST00000520781.6:c.383-1292T>C	ENSP00000427751.1:n.383-1292T>C
ENST00000523593.6:c.*235T>C	ENSP00000490700.1:n.*235T>C
ENST00000523744.2:n.4150T>C
ENST00000635769.1:c.413T>C	ENSP00000490485.1:p.Ile138Thr
ENST00000635944.1:c.*228T>C	ENSP00000490195.1:n.*228T>C
ENST00000635998.1:c.392T>C	ENSP00000490506.1:p.Ile131Thr
ENST00000636009.1:c.315-1292T>C	ENSP00000489988.1:n.315-1292T>C
ENST00000636033.1:c.*228T>C	ENSP00000489617.1:n.*228T>C
ENST00000636050.1:c.*235T>C	ENSP00000490562.1:n.*235T>C
ENST00000636128.1:c.382+2698T>C	ENSP00000489789.1:n.382+2698T>C
ENST00000636160.1:c.*284T>C	ENSP00000489651.1:n.*284T>C
ENST00000636171.1:c.383-48T>C	ENSP00000489761.1:n.383-48T>C
ENST00000636299.1:c.*163T>C	ENSP00000490202.1:n.*163T>C
ENST00000636435.1:n.3164T>C
ENST00000636455.1:c.440T>C	ENSP00000490502.1:p.Ile147Thr
ENST00000636494.1:c.*172T>C	ENSP00000490388.1:n.*172T>C
ENST00000636563.1:n.54T>C
ENST00000636577.1:c.383-51T>C	ENSP00000490027.1:n.383-51T>C
ENST00000636691.1:c.197T>C	ENSP00000490725.1:p.Ile66Thr
ENST00000636701.1:c.*43T>C	ENSP00000489800.1:n.*43T>C
ENST00000636815.1:c.309T>C
ENST00000636823.1:c.197T>C	ENSP00000490798.1:p.Ile66Thr
ENST00000636828.1:n.3256T>C
ENST00000636920.1:c.*228T>C	ENSP00000490437.1:n.*228T>C
ENST00000636997.1:c.305T>C	ENSP00000490093.1:p.Ile102Thr
ENST00000637013.1:c.*604T>C	ENSP00000490596.1:n.*604T>C
ENST00000637095.1:c.*172T>C	ENSP00000490415.1:n.*172T>C
ENST00000637244.1:c.*910T>C	ENSP00000490188.1:n.*910T>C
ENST00000637343.1:n.603T>C
ENST00000637429.1:c.*604T>C	ENSP00000490522.1:n.*604T>C
ENST00000637484.1:c.*420-1292T>C	ENSP00000490837.1:n.*420-1292T>C
ENST00000637528.1:c.383-54T>C	ENSP00000490801.1:n.383-54T>C
ENST00000637603.1:c.362T>C	ENSP00000489979.1:p.Ile121Thr
ENST00000637609.1:n.3113T>C
ENST00000637636.1:c.386T>C	ENSP00000490112.1:p.Ile129Thr
ENST00000637638.1:c.392T>C	ENSP00000490774.1:p.Ile131Thr
ENST00000637718.1:c.197T>C	ENSP00000490133.1:p.Ile66Thr
ENST00000637790.2:c.392T>C MANE Select	ENSP00000490272.1:p.Ile131Thr
ENST00000637857.1:n.105-2099T>C
ENST00000637922.1:c.197T>C	ENSP00000490071.1:p.Ile66Thr
ENST00000637991.1:c.431-1292T>C	ENSP00000489901.1:n.431-1292T>C
ENST00000638069.1:n.448T>C
ENST00000262097.10:c.392T>C	ENSP00000262097.6:p.Ile131Thr
ENST00000314146.10:c.374T>C	ENSP00000326970.10:p.Ile125Thr
ENST00000381733.8:c.440T>C	ENSP00000371152.4:p.Ile147Thr
ENST00000519468.5:n.389-2155T>C
ENST00000519545.5:n.406T>C
ENST00000520781.5:c.383-1292T>C	ENSP00000427751.1:n.383-1292T>C
ENST00000523593.5:n.245T>C
ENST00000523744.1:n.395T>C
NM_001127505.1:c.374T>C	NP_001120977.1:p.Ile125Thr
NM_001127505.2:c.374T>C	NP_001120977.1:p.Ile125Thr
NM_004315.4:c.440T>C	NP_004306.3:p.Ile147Thr
NM_004315.5:c.440T>C	NP_004306.3:p.Ile147Thr
NM_177924.3:c.392T>C	NP_808592.2:p.Ile131Thr
NM_177924.4:c.392T>C	NP_808592.2:p.Ile131Thr
XM_005273504.2:c.326T>C	XP_005273561.1:p.Ile109Thr
NM_001363743.1:c.197T>C	NP_001350672.1:p.Ile66Thr
XM_005273504.3:c.326T>C	XP_005273561.1:p.Ile109Thr
NM_177924.5:c.392T>C MANE Select	NP_808592.2:p.Ile131Thr
NM_001127505.3:c.374T>C	NP_001120977.1:p.Ile125Thr
NM_001363743.2:c.197T>C	NP_001350672.1:p.Ile66Thr
NM_004315.6:c.440T>C	NP_004306.3:p.Ile147Thr