Canonical Allele Identifier: CA370429439

Gene: ASAH1

Linked Data

• gnomAD v4: 8-18061437-C-T
• MyVariant Identifiers: chr8:g.17918946C>T (hg19) ; chr8:g.18061437C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061437C>T , CM000670.2:g.18061437C>T	GRCh38
NC_000008.10:g.17918946C>T , CM000670.1:g.17918946C>T	GRCh37
NC_000008.9:g.17963226C>T	NCBI36
NG_008985.1:g.28562G>A
NG_008985.2:g.28562G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000381733.9:c.773G>A	ENSP00000371152.4:p.Gly258Glu
ENST00000517409.2:n.693G>A
ENST00000518746.2:n.2411G>A
ENST00000519545.6:n.742G>A
ENST00000520781.6:c.650G>A	ENSP00000427751.1:p.Gly217Glu
ENST00000521542.2:n.33G>A
ENST00000635756.1:c.138G>A
ENST00000635944.1:c.*561G>A	ENSP00000490195.1:n.*561G>A
ENST00000635998.1:c.725G>A	ENSP00000490506.1:p.Gly242Glu
ENST00000636009.1:c.582G>A	ENSP00000489988.1:n.582G>A
ENST00000636033.1:c.*561G>A	ENSP00000489617.1:n.*561G>A
ENST00000636050.1:c.*568G>A	ENSP00000490562.1:n.*568G>A
ENST00000636128.1:c.404G>A	ENSP00000489789.1:p.Gly135Glu
ENST00000636160.1:c.*617G>A	ENSP00000489651.1:n.*617G>A
ENST00000636171.1:c.668G>A	ENSP00000489761.1:p.Gly223Glu
ENST00000636455.1:c.773G>A	ENSP00000490502.1:p.Gly258Glu
ENST00000636494.1:c.*505G>A	ENSP00000490388.1:n.*505G>A
ENST00000636563.1:n.387G>A
ENST00000636577.1:c.665G>A	ENSP00000490027.1:p.Gly222Glu
ENST00000636691.1:c.530G>A	ENSP00000490725.1:p.Gly177Glu
ENST00000636701.1:c.*376G>A	ENSP00000489800.1:n.*376G>A
ENST00000636815.1:c.642G>A
ENST00000636920.1:c.*561G>A	ENSP00000490437.1:n.*561G>A
ENST00000636997.1:c.638G>A	ENSP00000490093.1:p.Gly213Glu
ENST00000637013.1:c.*1093G>A	ENSP00000490596.1:n.*1093G>A
ENST00000637014.1:n.1132G>A
ENST00000637095.1:c.*505G>A	ENSP00000490415.1:n.*505G>A
ENST00000637244.1:c.*1243G>A	ENSP00000490188.1:n.*1243G>A
ENST00000637343.1:n.2162G>A
ENST00000637429.1:c.*937G>A	ENSP00000490522.1:n.*937G>A
ENST00000637484.1:c.*687G>A	ENSP00000490837.1:n.*687G>A
ENST00000637528.1:c.662G>A	ENSP00000490801.1:p.Gly221Glu
ENST00000637609.1:n.3446G>A
ENST00000637636.1:c.719G>A	ENSP00000490112.1:p.Gly240Glu
ENST00000637790.2:c.725G>A MANE Select	ENSP00000490272.1:p.Gly242Glu
ENST00000637857.1:n.1091G>A
ENST00000637922.1:c.530G>A	ENSP00000490071.1:p.Gly177Glu
ENST00000637991.1:c.698G>A	ENSP00000489901.1:p.Gly233Glu
ENST00000638028.1:n.942G>A
ENST00000638069.1:n.1546G>A
ENST00000262097.10:c.725G>A	ENSP00000262097.6:p.Gly242Glu
ENST00000314146.10:c.707G>A	ENSP00000326970.10:p.Gly236Glu
ENST00000381733.8:c.773G>A	ENSP00000371152.4:p.Gly258Glu
ENST00000518746.1:n.542G>A
ENST00000519468.5:n.554G>A
ENST00000520781.5:c.650G>A	ENSP00000427751.1:p.Gly217Glu
ENST00000521542.1:n.438G>A
NM_001127505.1:c.707G>A	NP_001120977.1:p.Gly236Glu
NM_001127505.2:c.707G>A	NP_001120977.1:p.Gly236Glu
NM_004315.4:c.773G>A	NP_004306.3:p.Gly258Glu
NM_004315.5:c.773G>A	NP_004306.3:p.Gly258Glu
NM_177924.3:c.725G>A	NP_808592.2:p.Gly242Glu
NM_177924.4:c.725G>A	NP_808592.2:p.Gly242Glu
XM_005273504.2:c.659G>A	XP_005273561.1:p.Gly220Glu
NM_001363743.1:c.530G>A	NP_001350672.1:p.Gly177Glu
XM_005273504.3:c.659G>A	XP_005273561.1:p.Gly220Glu
NM_177924.5:c.725G>A MANE Select	NP_808592.2:p.Gly242Glu
NM_001127505.3:c.707G>A	NP_001120977.1:p.Gly236Glu
NM_001363743.2:c.530G>A	NP_001350672.1:p.Gly177Glu
NM_004315.6:c.773G>A	NP_004306.3:p.Gly258Glu