Canonical Allele Identifier: CA370429271

Gene: ASAH1

Linked Data

• MyVariant Identifiers: chr8:g.17918897T>G (hg19) ; chr8:g.18061388T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061388T>G , CM000670.2:g.18061388T>G	GRCh38
NC_000008.10:g.17918897T>G , CM000670.1:g.17918897T>G	GRCh37
NC_000008.9:g.17963177T>G	NCBI36
NG_008985.1:g.28611A>C
NG_008985.2:g.28611A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.822A>C	ENSP00000371152.4:p.Glu274Asp
ENST00000518746.2:n.2460A>C
ENST00000520781.6:c.699A>C	ENSP00000427751.1:p.Glu233Asp
ENST00000521542.2:n.82A>C
ENST00000635756.1:c.187A>C
ENST00000635944.1:c.*610A>C	ENSP00000490195.1:n.*610A>C
ENST00000635998.1:c.774A>C	ENSP00000490506.1:p.Glu258Asp
ENST00000636009.1:c.631A>C	ENSP00000489988.1:n.631A>C
ENST00000636033.1:c.*610A>C	ENSP00000489617.1:n.*610A>C
ENST00000636050.1:c.*617A>C	ENSP00000490562.1:n.*617A>C
ENST00000636128.1:c.453A>C	ENSP00000489789.1:p.Glu151Asp
ENST00000636160.1:c.*666A>C	ENSP00000489651.1:n.*666A>C
ENST00000636171.1:c.717A>C	ENSP00000489761.1:p.Glu239Asp
ENST00000636455.1:c.822A>C	ENSP00000490502.1:p.Glu274Asp
ENST00000636494.1:c.*554A>C	ENSP00000490388.1:n.*554A>C
ENST00000636563.1:n.436A>C
ENST00000636577.1:c.714A>C	ENSP00000490027.1:p.Glu238Asp
ENST00000636691.1:c.579A>C	ENSP00000490725.1:p.Glu193Asp
ENST00000636701.1:c.*425A>C	ENSP00000489800.1:n.*425A>C
ENST00000636815.1:c.691A>C
ENST00000636920.1:c.*610A>C	ENSP00000490437.1:n.*610A>C
ENST00000636997.1:c.687A>C	ENSP00000490093.1:p.Glu229Asp
ENST00000637013.1:c.*1142A>C	ENSP00000490596.1:n.*1142A>C
ENST00000637014.1:n.1181A>C
ENST00000637095.1:c.*554A>C	ENSP00000490415.1:n.*554A>C
ENST00000637244.1:c.*1292A>C	ENSP00000490188.1:n.*1292A>C
ENST00000637343.1:n.2211A>C
ENST00000637429.1:c.*986A>C	ENSP00000490522.1:n.*986A>C
ENST00000637484.1:c.*736A>C	ENSP00000490837.1:n.*736A>C
ENST00000637528.1:c.711A>C	ENSP00000490801.1:p.Glu237Asp
ENST00000637609.1:n.3495A>C
ENST00000637636.1:c.768A>C	ENSP00000490112.1:p.Glu256Asp
ENST00000637790.2:c.774A>C MANE Select	ENSP00000490272.1:p.Glu258Asp
ENST00000637857.1:n.1140A>C
ENST00000637922.1:c.579A>C	ENSP00000490071.1:p.Glu193Asp
ENST00000637991.1:c.747A>C	ENSP00000489901.1:p.Glu249Asp
ENST00000638028.1:n.991A>C
ENST00000638069.1:n.1595A>C
ENST00000262097.10:c.774A>C	ENSP00000262097.6:p.Glu258Asp
ENST00000314146.10:c.756A>C	ENSP00000326970.10:p.Glu252Asp
ENST00000381733.8:c.822A>C	ENSP00000371152.4:p.Glu274Asp
ENST00000519468.5:n.603A>C
ENST00000520781.5:c.699A>C	ENSP00000427751.1:p.Glu233Asp
ENST00000521542.1:n.487A>C
NM_001127505.1:c.756A>C	NP_001120977.1:p.Glu252Asp
NM_001127505.2:c.756A>C	NP_001120977.1:p.Glu252Asp
NM_004315.4:c.822A>C	NP_004306.3:p.Glu274Asp
NM_004315.5:c.822A>C	NP_004306.3:p.Glu274Asp
NM_177924.3:c.774A>C	NP_808592.2:p.Glu258Asp
NM_177924.4:c.774A>C	NP_808592.2:p.Glu258Asp
XM_005273504.2:c.708A>C	XP_005273561.1:p.Glu236Asp
NM_001363743.1:c.579A>C	NP_001350672.1:p.Glu193Asp
XM_005273504.3:c.708A>C	XP_005273561.1:p.Glu236Asp
NM_177924.5:c.774A>C MANE Select	NP_808592.2:p.Glu258Asp
NM_001127505.3:c.756A>C	NP_001120977.1:p.Glu252Asp
NM_001363743.2:c.579A>C	NP_001350672.1:p.Glu193Asp
NM_004315.6:c.822A>C	NP_004306.3:p.Glu274Asp