Canonical Allele Identifier: CA370429278

Gene: ASAH1

Linked Data

• dbSNP Id: rs1799692342
• MyVariant Identifiers: chr8:g.17918899C>G (hg19) ; chr8:g.18061390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061390C>G , CM000670.2:g.18061390C>G	GRCh38
NC_000008.10:g.17918899C>G , CM000670.1:g.17918899C>G	GRCh37
NC_000008.9:g.17963179C>G	NCBI36
NG_008985.1:g.28609G>C
NG_008985.2:g.28609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.820G>C	ENSP00000371152.4:p.Glu274Gln
ENST00000517409.2:n.740G>C
ENST00000518746.2:n.2458G>C
ENST00000520781.6:c.697G>C	ENSP00000427751.1:p.Glu233Gln
ENST00000521542.2:n.80G>C
ENST00000635756.1:c.185G>C
ENST00000635944.1:c.*608G>C	ENSP00000490195.1:n.*608G>C
ENST00000635998.1:c.772G>C	ENSP00000490506.1:p.Glu258Gln
ENST00000636009.1:c.629G>C	ENSP00000489988.1:n.629G>C
ENST00000636033.1:c.*608G>C	ENSP00000489617.1:n.*608G>C
ENST00000636050.1:c.*615G>C	ENSP00000490562.1:n.*615G>C
ENST00000636128.1:c.451G>C	ENSP00000489789.1:p.Glu151Gln
ENST00000636160.1:c.*664G>C	ENSP00000489651.1:n.*664G>C
ENST00000636171.1:c.715G>C	ENSP00000489761.1:p.Glu239Gln
ENST00000636455.1:c.820G>C	ENSP00000490502.1:p.Glu274Gln
ENST00000636494.1:c.*552G>C	ENSP00000490388.1:n.*552G>C
ENST00000636563.1:n.434G>C
ENST00000636577.1:c.712G>C	ENSP00000490027.1:p.Glu238Gln
ENST00000636691.1:c.577G>C	ENSP00000490725.1:p.Glu193Gln
ENST00000636701.1:c.*423G>C	ENSP00000489800.1:n.*423G>C
ENST00000636815.1:c.689G>C
ENST00000636920.1:c.*608G>C	ENSP00000490437.1:n.*608G>C
ENST00000636997.1:c.685G>C	ENSP00000490093.1:p.Glu229Gln
ENST00000637013.1:c.*1140G>C	ENSP00000490596.1:n.*1140G>C
ENST00000637014.1:n.1179G>C
ENST00000637095.1:c.*552G>C	ENSP00000490415.1:n.*552G>C
ENST00000637244.1:c.*1290G>C	ENSP00000490188.1:n.*1290G>C
ENST00000637343.1:n.2209G>C
ENST00000637429.1:c.*984G>C	ENSP00000490522.1:n.*984G>C
ENST00000637484.1:c.*734G>C	ENSP00000490837.1:n.*734G>C
ENST00000637528.1:c.709G>C	ENSP00000490801.1:p.Glu237Gln
ENST00000637609.1:n.3493G>C
ENST00000637636.1:c.766G>C	ENSP00000490112.1:p.Glu256Gln
ENST00000637790.2:c.772G>C MANE Select	ENSP00000490272.1:p.Glu258Gln
ENST00000637857.1:n.1138G>C
ENST00000637922.1:c.577G>C	ENSP00000490071.1:p.Glu193Gln
ENST00000637991.1:c.745G>C	ENSP00000489901.1:p.Glu249Gln
ENST00000638028.1:n.989G>C
ENST00000638069.1:n.1593G>C
ENST00000262097.10:c.772G>C	ENSP00000262097.6:p.Glu258Gln
ENST00000314146.10:c.754G>C	ENSP00000326970.10:p.Glu252Gln
ENST00000381733.8:c.820G>C	ENSP00000371152.4:p.Glu274Gln
ENST00000519468.5:n.601G>C
ENST00000520781.5:c.697G>C	ENSP00000427751.1:p.Glu233Gln
ENST00000521542.1:n.485G>C
NM_001127505.1:c.754G>C	NP_001120977.1:p.Glu252Gln
NM_001127505.2:c.754G>C	NP_001120977.1:p.Glu252Gln
NM_004315.4:c.820G>C	NP_004306.3:p.Glu274Gln
NM_004315.5:c.820G>C	NP_004306.3:p.Glu274Gln
NM_177924.3:c.772G>C	NP_808592.2:p.Glu258Gln
NM_177924.4:c.772G>C	NP_808592.2:p.Glu258Gln
XM_005273504.2:c.706G>C	XP_005273561.1:p.Glu236Gln
NM_001363743.1:c.577G>C	NP_001350672.1:p.Glu193Gln
XM_005273504.3:c.706G>C	XP_005273561.1:p.Glu236Gln
NM_177924.5:c.772G>C MANE Select	NP_808592.2:p.Glu258Gln
NM_001127505.3:c.754G>C	NP_001120977.1:p.Glu252Gln
NM_001363743.2:c.577G>C	NP_001350672.1:p.Glu193Gln
NM_004315.6:c.820G>C	NP_004306.3:p.Glu274Gln