Canonical Allele Identifier: CA370431756

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17922019A>C (hg19) ; chr8:g.18064510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18064510A>C , CM000670.2:g.18064510A>C	GRCh38
NC_000008.10:g.17922019A>C , CM000670.1:g.17922019A>C	GRCh37
NC_000008.9:g.17966299A>C	NCBI36
NG_008985.1:g.25489T>G
NG_008985.2:g.25489T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.452T>G	ENSP00000371152.4:p.Ile151Ser
ENST00000519545.6:n.421T>G
ENST00000520781.6:c.383-1280T>G	ENSP00000427751.1:n.383-1280T>G
ENST00000523593.6:c.*247T>G	ENSP00000490700.1:n.*247T>G
ENST00000523744.2:n.4162T>G
ENST00000635769.1:c.425T>G	ENSP00000490485.1:p.Ile142Ser
ENST00000635944.1:c.*240T>G	ENSP00000490195.1:n.*240T>G
ENST00000635998.1:c.404T>G	ENSP00000490506.1:p.Ile135Ser
ENST00000636009.1:c.315-1280T>G	ENSP00000489988.1:n.315-1280T>G
ENST00000636033.1:c.*240T>G	ENSP00000489617.1:n.*240T>G
ENST00000636050.1:c.*247T>G	ENSP00000490562.1:n.*247T>G
ENST00000636128.1:c.382+2710T>G	ENSP00000489789.1:n.382+2710T>G
ENST00000636160.1:c.*296T>G	ENSP00000489651.1:n.*296T>G
ENST00000636171.1:c.383-36T>G	ENSP00000489761.1:n.383-36T>G
ENST00000636299.1:c.*175T>G	ENSP00000490202.1:n.*175T>G
ENST00000636435.1:n.3176T>G
ENST00000636455.1:c.452T>G	ENSP00000490502.1:p.Ile151Ser
ENST00000636494.1:c.*184T>G	ENSP00000490388.1:n.*184T>G
ENST00000636563.1:n.66T>G
ENST00000636577.1:c.383-39T>G	ENSP00000490027.1:n.383-39T>G
ENST00000636691.1:c.209T>G	ENSP00000490725.1:p.Ile70Ser
ENST00000636701.1:c.*55T>G	ENSP00000489800.1:n.*55T>G
ENST00000636815.1:c.321T>G
ENST00000636823.1:c.209T>G	ENSP00000490798.1:p.Ile70Ser
ENST00000636828.1:n.3268T>G
ENST00000636920.1:c.*240T>G	ENSP00000490437.1:n.*240T>G
ENST00000636997.1:c.317T>G	ENSP00000490093.1:p.Ile106Ser
ENST00000637013.1:c.*616T>G	ENSP00000490596.1:n.*616T>G
ENST00000637095.1:c.*184T>G	ENSP00000490415.1:n.*184T>G
ENST00000637244.1:c.*922T>G	ENSP00000490188.1:n.*922T>G
ENST00000637343.1:n.615T>G
ENST00000637429.1:c.*616T>G	ENSP00000490522.1:n.*616T>G
ENST00000637484.1:c.*420-1280T>G	ENSP00000490837.1:n.*420-1280T>G
ENST00000637528.1:c.383-42T>G	ENSP00000490801.1:n.383-42T>G
ENST00000637603.1:c.374T>G	ENSP00000489979.1:p.Ile125Ser
ENST00000637609.1:n.3125T>G
ENST00000637636.1:c.398T>G	ENSP00000490112.1:p.Ile133Ser
ENST00000637638.1:c.404T>G	ENSP00000490774.1:p.Ile135Ser
ENST00000637718.1:c.209T>G	ENSP00000490133.1:p.Ile70Ser
ENST00000637790.2:c.404T>G MANE Select	ENSP00000490272.1:p.Ile135Ser
ENST00000637857.1:n.105-2087T>G
ENST00000637922.1:c.209T>G	ENSP00000490071.1:p.Ile70Ser
ENST00000637991.1:c.431-1280T>G	ENSP00000489901.1:n.431-1280T>G
ENST00000638069.1:n.460T>G
ENST00000262097.10:c.404T>G	ENSP00000262097.6:p.Ile135Ser
ENST00000314146.10:c.386T>G	ENSP00000326970.10:p.Ile129Ser
ENST00000381733.8:c.452T>G	ENSP00000371152.4:p.Ile151Ser
ENST00000519468.5:n.389-2143T>G
ENST00000519545.5:n.418T>G
ENST00000520781.5:c.383-1280T>G	ENSP00000427751.1:n.383-1280T>G
ENST00000523593.5:n.257T>G
ENST00000523744.1:n.407T>G
NM_001127505.1:c.386T>G	NP_001120977.1:p.Ile129Ser
NM_001127505.2:c.386T>G	NP_001120977.1:p.Ile129Ser
NM_004315.4:c.452T>G	NP_004306.3:p.Ile151Ser
NM_004315.5:c.452T>G	NP_004306.3:p.Ile151Ser
NM_177924.3:c.404T>G	NP_808592.2:p.Ile135Ser
NM_177924.4:c.404T>G	NP_808592.2:p.Ile135Ser
XM_005273504.2:c.338T>G	XP_005273561.1:p.Ile113Ser
NM_001363743.1:c.209T>G	NP_001350672.1:p.Ile70Ser
XM_005273504.3:c.338T>G	XP_005273561.1:p.Ile113Ser
NM_177924.5:c.404T>G MANE Select	NP_808592.2:p.Ile135Ser
NM_001127505.3:c.386T>G	NP_001120977.1:p.Ile129Ser
NM_001363743.2:c.209T>G	NP_001350672.1:p.Ile70Ser
NM_004315.6:c.452T>G	NP_004306.3:p.Ile151Ser