Canonical Allele Identifier: CA370429445

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061438-C-T
• MyVariant Identifiers: chr8:g.17918947C>T (hg19) ; chr8:g.18061438C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061438C>T , CM000670.2:g.18061438C>T	GRCh38
NC_000008.10:g.17918947C>T , CM000670.1:g.17918947C>T	GRCh37
NC_000008.9:g.17963227C>T	NCBI36
NG_008985.1:g.28561G>A
NG_008985.2:g.28561G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.772G>A	ENSP00000371152.4:p.Gly258Arg
ENST00000517409.2:n.692G>A
ENST00000518746.2:n.2410G>A
ENST00000519545.6:n.741G>A
ENST00000520781.6:c.649G>A	ENSP00000427751.1:p.Gly217Arg
ENST00000521542.2:n.32G>A
ENST00000635756.1:c.137G>A
ENST00000635944.1:c.*560G>A	ENSP00000490195.1:n.*560G>A
ENST00000635998.1:c.724G>A	ENSP00000490506.1:p.Gly242Arg
ENST00000636009.1:c.581G>A	ENSP00000489988.1:n.581G>A
ENST00000636033.1:c.*560G>A	ENSP00000489617.1:n.*560G>A
ENST00000636050.1:c.*567G>A	ENSP00000490562.1:n.*567G>A
ENST00000636128.1:c.403G>A	ENSP00000489789.1:p.Gly135Arg
ENST00000636160.1:c.*616G>A	ENSP00000489651.1:n.*616G>A
ENST00000636171.1:c.667G>A	ENSP00000489761.1:p.Gly223Arg
ENST00000636455.1:c.772G>A	ENSP00000490502.1:p.Gly258Arg
ENST00000636494.1:c.*504G>A	ENSP00000490388.1:n.*504G>A
ENST00000636563.1:n.386G>A
ENST00000636577.1:c.664G>A	ENSP00000490027.1:p.Gly222Arg
ENST00000636691.1:c.529G>A	ENSP00000490725.1:p.Gly177Arg
ENST00000636701.1:c.*375G>A	ENSP00000489800.1:n.*375G>A
ENST00000636815.1:c.641G>A
ENST00000636920.1:c.*560G>A	ENSP00000490437.1:n.*560G>A
ENST00000636997.1:c.637G>A	ENSP00000490093.1:p.Gly213Arg
ENST00000637013.1:c.*1092G>A	ENSP00000490596.1:n.*1092G>A
ENST00000637014.1:n.1131G>A
ENST00000637095.1:c.*504G>A	ENSP00000490415.1:n.*504G>A
ENST00000637244.1:c.*1242G>A	ENSP00000490188.1:n.*1242G>A
ENST00000637343.1:n.2161G>A
ENST00000637429.1:c.*936G>A	ENSP00000490522.1:n.*936G>A
ENST00000637484.1:c.*686G>A	ENSP00000490837.1:n.*686G>A
ENST00000637528.1:c.661G>A	ENSP00000490801.1:p.Gly221Arg
ENST00000637609.1:n.3445G>A
ENST00000637636.1:c.718G>A	ENSP00000490112.1:p.Gly240Arg
ENST00000637790.2:c.724G>A MANE Select	ENSP00000490272.1:p.Gly242Arg
ENST00000637857.1:n.1090G>A
ENST00000637922.1:c.529G>A	ENSP00000490071.1:p.Gly177Arg
ENST00000637991.1:c.697G>A	ENSP00000489901.1:p.Gly233Arg
ENST00000638028.1:n.941G>A
ENST00000638069.1:n.1545G>A
ENST00000262097.10:c.724G>A	ENSP00000262097.6:p.Gly242Arg
ENST00000314146.10:c.706G>A	ENSP00000326970.10:p.Gly236Arg
ENST00000381733.8:c.772G>A	ENSP00000371152.4:p.Gly258Arg
ENST00000518746.1:n.541G>A
ENST00000519468.5:n.553G>A
ENST00000520781.5:c.649G>A	ENSP00000427751.1:p.Gly217Arg
ENST00000521542.1:n.437G>A
NM_001127505.1:c.706G>A	NP_001120977.1:p.Gly236Arg
NM_001127505.2:c.706G>A	NP_001120977.1:p.Gly236Arg
NM_004315.4:c.772G>A	NP_004306.3:p.Gly258Arg
NM_004315.5:c.772G>A	NP_004306.3:p.Gly258Arg
NM_177924.3:c.724G>A	NP_808592.2:p.Gly242Arg
NM_177924.4:c.724G>A	NP_808592.2:p.Gly242Arg
XM_005273504.2:c.658G>A	XP_005273561.1:p.Gly220Arg
NM_001363743.1:c.529G>A	NP_001350672.1:p.Gly177Arg
XM_005273504.3:c.658G>A	XP_005273561.1:p.Gly220Arg
NM_177924.5:c.724G>A MANE Select	NP_808592.2:p.Gly242Arg
NM_001127505.3:c.706G>A	NP_001120977.1:p.Gly236Arg
NM_001363743.2:c.529G>A	NP_001350672.1:p.Gly177Arg
NM_004315.6:c.772G>A	NP_004306.3:p.Gly258Arg