Canonical Allele Identifier: CA220288
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 92356
dbSNP Id: rs398123125
gnomAD v2: 5-78181578-C-A
gnomAD v3: 5-78885755-C-A
gnomAD v4: 5-78885755-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78885755C>A , CM000667.2:g.78885755C>A GRCh38
NC_000005.9:g.78181578C>A , CM000667.1:g.78181578C>A GRCh37
NC_000005.8:g.78217334C>A NCBI36
NG_007089.1:g.105780G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.971G>T MANE Select ENSP00000264914.4:p.Gly324Val
ENST00000521800.2:n.153G>T
ENST00000565165.2:c.971G>T ENSP00000456339.2:p.Gly324Val
ENST00000264914.8:c.971G>T ENSP00000264914.4:p.Gly324Val
ENST00000396151.7:c.971G>T ENSP00000379455.3:p.Gly324Val
ENST00000521800.1:n.76G>T
ENST00000565165.1:c.971G>T ENSP00000456339.1:p.Gly324Val
NM_000046.3:c.971G>T NP_000037.2:p.Gly324Val
NM_198709.2:c.971G>T NP_942002.1:p.Gly324Val
XM_005248506.3:c.971G>T XP_005248563.1:p.Gly324Val
XM_011543390.1:c.971G>T XP_011541692.1:p.Gly324Val
XM_011543391.1:c.971G>T XP_011541693.1:p.Gly324Val
XM_011543392.1:c.971G>T XP_011541694.1:p.Gly324Val
XM_011543393.1:c.971G>T XP_011541695.1:p.Gly324Val
NM_000046.4:c.971G>T NP_000037.2:p.Gly324Val
XM_011543391.3:c.971G>T XP_011541693.1:p.Gly324Val
XM_011543392.3:c.971G>T XP_011541694.1:p.Gly324Val
XM_011543393.2:c.971G>T XP_011541695.1:p.Gly324Val
XM_017009471.2:c.971G>T XP_016864960.1:p.Gly324Val
XR_001742065.2:n.1042G>T
XR_001742066.2:n.1042G>T
NM_000046.5:c.971G>T MANE Select NP_000037.2:p.Gly324Val
NM_198709.3:c.971G>T NP_942002.1:p.Gly324Val