Canonical Allele Identifier: CA370429322

Gene: ASAH1

Linked Data

• ClinVar Variation Id: 812478
• ClinVar RCV Id: RCV001003307 ; RCV003558631
• dbSNP Id: rs1564537266
• gnomAD v2: 8-17918911-T-C
• gnomAD v4: 8-18061402-T-C
• MyVariant Identifiers: chr8:g.17918911T>C (hg19) ; chr8:g.18061402T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.18061402T>C , CM000670.2:g.18061402T>C	GRCh38
NC_000008.10:g.17918911T>C , CM000670.1:g.17918911T>C	GRCh37
NC_000008.9:g.17963191T>C	NCBI36
NG_008985.1:g.28597A>G
NG_008985.2:g.28597A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381733.9:c.808A>G	ENSP00000371152.4:p.Arg270Gly
ENST00000517409.2:n.728A>G
ENST00000518746.2:n.2446A>G
ENST00000520781.6:c.685A>G	ENSP00000427751.1:p.Arg229Gly
ENST00000521542.2:n.68A>G
ENST00000635756.1:c.173A>G
ENST00000635944.1:c.*596A>G	ENSP00000490195.1:n.*596A>G
ENST00000635998.1:c.760A>G	ENSP00000490506.1:p.Arg254Gly
ENST00000636009.1:c.617A>G	ENSP00000489988.1:n.617A>G
ENST00000636033.1:c.*596A>G	ENSP00000489617.1:n.*596A>G
ENST00000636050.1:c.*603A>G	ENSP00000490562.1:n.*603A>G
ENST00000636128.1:c.439A>G	ENSP00000489789.1:p.Arg147Gly
ENST00000636160.1:c.*652A>G	ENSP00000489651.1:n.*652A>G
ENST00000636171.1:c.703A>G	ENSP00000489761.1:p.Arg235Gly
ENST00000636455.1:c.808A>G	ENSP00000490502.1:p.Arg270Gly
ENST00000636494.1:c.*540A>G	ENSP00000490388.1:n.*540A>G
ENST00000636563.1:n.422A>G
ENST00000636577.1:c.700A>G	ENSP00000490027.1:p.Arg234Gly
ENST00000636691.1:c.565A>G	ENSP00000490725.1:p.Arg189Gly
ENST00000636701.1:c.*411A>G	ENSP00000489800.1:n.*411A>G
ENST00000636815.1:c.677A>G
ENST00000636920.1:c.*596A>G	ENSP00000490437.1:n.*596A>G
ENST00000636997.1:c.673A>G	ENSP00000490093.1:p.Arg225Gly
ENST00000637013.1:c.*1128A>G	ENSP00000490596.1:n.*1128A>G
ENST00000637014.1:n.1167A>G
ENST00000637095.1:c.*540A>G	ENSP00000490415.1:n.*540A>G
ENST00000637244.1:c.*1278A>G	ENSP00000490188.1:n.*1278A>G
ENST00000637343.1:n.2197A>G
ENST00000637429.1:c.*972A>G	ENSP00000490522.1:n.*972A>G
ENST00000637484.1:c.*722A>G	ENSP00000490837.1:n.*722A>G
ENST00000637528.1:c.697A>G	ENSP00000490801.1:p.Arg233Gly
ENST00000637609.1:n.3481A>G
ENST00000637636.1:c.754A>G	ENSP00000490112.1:p.Arg252Gly
ENST00000637790.2:c.760A>G MANE Select	ENSP00000490272.1:p.Arg254Gly
ENST00000637857.1:n.1126A>G
ENST00000637922.1:c.565A>G	ENSP00000490071.1:p.Arg189Gly
ENST00000637991.1:c.733A>G	ENSP00000489901.1:p.Arg245Gly
ENST00000638028.1:n.977A>G
ENST00000638069.1:n.1581A>G
ENST00000262097.10:c.760A>G	ENSP00000262097.6:p.Arg254Gly
ENST00000314146.10:c.742A>G	ENSP00000326970.10:p.Arg248Gly
ENST00000381733.8:c.808A>G	ENSP00000371152.4:p.Arg270Gly
ENST00000518746.1:n.577A>G
ENST00000519468.5:n.589A>G
ENST00000520781.5:c.685A>G	ENSP00000427751.1:p.Arg229Gly
ENST00000521542.1:n.473A>G
NM_001127505.1:c.742A>G	NP_001120977.1:p.Arg248Gly
NM_001127505.2:c.742A>G	NP_001120977.1:p.Arg248Gly
NM_004315.4:c.808A>G	NP_004306.3:p.Arg270Gly
NM_004315.5:c.808A>G	NP_004306.3:p.Arg270Gly
NM_177924.3:c.760A>G	NP_808592.2:p.Arg254Gly
NM_177924.4:c.760A>G	NP_808592.2:p.Arg254Gly
XM_005273504.2:c.694A>G	XP_005273561.1:p.Arg232Gly
NM_001363743.1:c.565A>G	NP_001350672.1:p.Arg189Gly
XM_005273504.3:c.694A>G	XP_005273561.1:p.Arg232Gly
NM_177924.5:c.760A>G MANE Select	NP_808592.2:p.Arg254Gly
NM_001127505.3:c.742A>G	NP_001120977.1:p.Arg248Gly
NM_001363743.2:c.565A>G	NP_001350672.1:p.Arg189Gly
NM_004315.6:c.808A>G	NP_004306.3:p.Arg270Gly