Canonical Allele Identifier: CA370429276

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918898T>C (hg19) ; chr8:g.18061389T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061389T>C , CM000670.2:g.18061389T>C	GRCh38
NC_000008.10:g.17918898T>C , CM000670.1:g.17918898T>C	GRCh37
NC_000008.9:g.17963178T>C	NCBI36
NG_008985.1:g.28610A>G
NG_008985.2:g.28610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.821A>G	ENSP00000371152.4:p.Glu274Gly
ENST00000518746.2:n.2459A>G
ENST00000520781.6:c.698A>G	ENSP00000427751.1:p.Glu233Gly
ENST00000521542.2:n.81A>G
ENST00000635756.1:c.186A>G
ENST00000635944.1:c.*609A>G	ENSP00000490195.1:n.*609A>G
ENST00000635998.1:c.773A>G	ENSP00000490506.1:p.Glu258Gly
ENST00000636009.1:c.630A>G	ENSP00000489988.1:n.630A>G
ENST00000636033.1:c.*609A>G	ENSP00000489617.1:n.*609A>G
ENST00000636050.1:c.*616A>G	ENSP00000490562.1:n.*616A>G
ENST00000636128.1:c.452A>G	ENSP00000489789.1:p.Glu151Gly
ENST00000636160.1:c.*665A>G	ENSP00000489651.1:n.*665A>G
ENST00000636171.1:c.716A>G	ENSP00000489761.1:p.Glu239Gly
ENST00000636455.1:c.821A>G	ENSP00000490502.1:p.Glu274Gly
ENST00000636494.1:c.*553A>G	ENSP00000490388.1:n.*553A>G
ENST00000636563.1:n.435A>G
ENST00000636577.1:c.713A>G	ENSP00000490027.1:p.Glu238Gly
ENST00000636691.1:c.578A>G	ENSP00000490725.1:p.Glu193Gly
ENST00000636701.1:c.*424A>G	ENSP00000489800.1:n.*424A>G
ENST00000636815.1:c.690A>G
ENST00000636920.1:c.*609A>G	ENSP00000490437.1:n.*609A>G
ENST00000636997.1:c.686A>G	ENSP00000490093.1:p.Glu229Gly
ENST00000637013.1:c.*1141A>G	ENSP00000490596.1:n.*1141A>G
ENST00000637014.1:n.1180A>G
ENST00000637095.1:c.*553A>G	ENSP00000490415.1:n.*553A>G
ENST00000637244.1:c.*1291A>G	ENSP00000490188.1:n.*1291A>G
ENST00000637343.1:n.2210A>G
ENST00000637429.1:c.*985A>G	ENSP00000490522.1:n.*985A>G
ENST00000637484.1:c.*735A>G	ENSP00000490837.1:n.*735A>G
ENST00000637528.1:c.710A>G	ENSP00000490801.1:p.Glu237Gly
ENST00000637609.1:n.3494A>G
ENST00000637636.1:c.767A>G	ENSP00000490112.1:p.Glu256Gly
ENST00000637790.2:c.773A>G MANE Select	ENSP00000490272.1:p.Glu258Gly
ENST00000637857.1:n.1139A>G
ENST00000637922.1:c.578A>G	ENSP00000490071.1:p.Glu193Gly
ENST00000637991.1:c.746A>G	ENSP00000489901.1:p.Glu249Gly
ENST00000638028.1:n.990A>G
ENST00000638069.1:n.1594A>G
ENST00000262097.10:c.773A>G	ENSP00000262097.6:p.Glu258Gly
ENST00000314146.10:c.755A>G	ENSP00000326970.10:p.Glu252Gly
ENST00000381733.8:c.821A>G	ENSP00000371152.4:p.Glu274Gly
ENST00000519468.5:n.602A>G
ENST00000520781.5:c.698A>G	ENSP00000427751.1:p.Glu233Gly
ENST00000521542.1:n.486A>G
NM_001127505.1:c.755A>G	NP_001120977.1:p.Glu252Gly
NM_001127505.2:c.755A>G	NP_001120977.1:p.Glu252Gly
NM_004315.4:c.821A>G	NP_004306.3:p.Glu274Gly
NM_004315.5:c.821A>G	NP_004306.3:p.Glu274Gly
NM_177924.3:c.773A>G	NP_808592.2:p.Glu258Gly
NM_177924.4:c.773A>G	NP_808592.2:p.Glu258Gly
XM_005273504.2:c.707A>G	XP_005273561.1:p.Glu236Gly
NM_001363743.1:c.578A>G	NP_001350672.1:p.Glu193Gly
XM_005273504.3:c.707A>G	XP_005273561.1:p.Glu236Gly
NM_177924.5:c.773A>G MANE Select	NP_808592.2:p.Glu258Gly
NM_001127505.3:c.755A>G	NP_001120977.1:p.Glu252Gly
NM_001363743.2:c.578A>G	NP_001350672.1:p.Glu193Gly
NM_004315.6:c.821A>G	NP_004306.3:p.Glu274Gly