Canonical Allele Identifier: CA370429428

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061432-T-G
• MyVariant Identifiers: chr8:g.17918941T>G (hg19) ; chr8:g.18061432T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061432T>G , CM000670.2:g.18061432T>G	GRCh38
NC_000008.10:g.17918941T>G , CM000670.1:g.17918941T>G	GRCh37
NC_000008.9:g.17963221T>G	NCBI36
NG_008985.1:g.28567A>C
NG_008985.2:g.28567A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.778A>C	ENSP00000371152.4:p.Lys260Gln
ENST00000517409.2:n.698A>C
ENST00000518746.2:n.2416A>C
ENST00000519545.6:n.747A>C
ENST00000520781.6:c.655A>C	ENSP00000427751.1:p.Lys219Gln
ENST00000521542.2:n.38A>C
ENST00000635756.1:c.143A>C
ENST00000635944.1:c.*566A>C	ENSP00000490195.1:n.*566A>C
ENST00000635998.1:c.730A>C	ENSP00000490506.1:p.Lys244Gln
ENST00000636009.1:c.587A>C	ENSP00000489988.1:n.587A>C
ENST00000636033.1:c.*566A>C	ENSP00000489617.1:n.*566A>C
ENST00000636050.1:c.*573A>C	ENSP00000490562.1:n.*573A>C
ENST00000636128.1:c.409A>C	ENSP00000489789.1:p.Lys137Gln
ENST00000636160.1:c.*622A>C	ENSP00000489651.1:n.*622A>C
ENST00000636171.1:c.673A>C	ENSP00000489761.1:p.Lys225Gln
ENST00000636455.1:c.778A>C	ENSP00000490502.1:p.Lys260Gln
ENST00000636494.1:c.*510A>C	ENSP00000490388.1:n.*510A>C
ENST00000636563.1:n.392A>C
ENST00000636577.1:c.670A>C	ENSP00000490027.1:p.Lys224Gln
ENST00000636691.1:c.535A>C	ENSP00000490725.1:p.Lys179Gln
ENST00000636701.1:c.*381A>C	ENSP00000489800.1:n.*381A>C
ENST00000636815.1:c.647A>C
ENST00000636920.1:c.*566A>C	ENSP00000490437.1:n.*566A>C
ENST00000636997.1:c.643A>C	ENSP00000490093.1:p.Lys215Gln
ENST00000637013.1:c.*1098A>C	ENSP00000490596.1:n.*1098A>C
ENST00000637014.1:n.1137A>C
ENST00000637095.1:c.*510A>C	ENSP00000490415.1:n.*510A>C
ENST00000637244.1:c.*1248A>C	ENSP00000490188.1:n.*1248A>C
ENST00000637343.1:n.2167A>C
ENST00000637429.1:c.*942A>C	ENSP00000490522.1:n.*942A>C
ENST00000637484.1:c.*692A>C	ENSP00000490837.1:n.*692A>C
ENST00000637528.1:c.667A>C	ENSP00000490801.1:p.Lys223Gln
ENST00000637609.1:n.3451A>C
ENST00000637636.1:c.724A>C	ENSP00000490112.1:p.Lys242Gln
ENST00000637790.2:c.730A>C MANE Select	ENSP00000490272.1:p.Lys244Gln
ENST00000637857.1:n.1096A>C
ENST00000637922.1:c.535A>C	ENSP00000490071.1:p.Lys179Gln
ENST00000637991.1:c.703A>C	ENSP00000489901.1:p.Lys235Gln
ENST00000638028.1:n.947A>C
ENST00000638069.1:n.1551A>C
ENST00000262097.10:c.730A>C	ENSP00000262097.6:p.Lys244Gln
ENST00000314146.10:c.712A>C	ENSP00000326970.10:p.Lys238Gln
ENST00000381733.8:c.778A>C	ENSP00000371152.4:p.Lys260Gln
ENST00000518746.1:n.547A>C
ENST00000519468.5:n.559A>C
ENST00000520781.5:c.655A>C	ENSP00000427751.1:p.Lys219Gln
ENST00000521542.1:n.443A>C
NM_001127505.1:c.712A>C	NP_001120977.1:p.Lys238Gln
NM_001127505.2:c.712A>C	NP_001120977.1:p.Lys238Gln
NM_004315.4:c.778A>C	NP_004306.3:p.Lys260Gln
NM_004315.5:c.778A>C	NP_004306.3:p.Lys260Gln
NM_177924.3:c.730A>C	NP_808592.2:p.Lys244Gln
NM_177924.4:c.730A>C	NP_808592.2:p.Lys244Gln
XM_005273504.2:c.664A>C	XP_005273561.1:p.Lys222Gln
NM_001363743.1:c.535A>C	NP_001350672.1:p.Lys179Gln
XM_005273504.3:c.664A>C	XP_005273561.1:p.Lys222Gln
NM_177924.5:c.730A>C MANE Select	NP_808592.2:p.Lys244Gln
NM_001127505.3:c.712A>C	NP_001120977.1:p.Lys238Gln
NM_001363743.2:c.535A>C	NP_001350672.1:p.Lys179Gln
NM_004315.6:c.778A>C	NP_004306.3:p.Lys260Gln