Canonical Allele Identifier: CA114609
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 885
dbSNP Id: rs118203943
gnomAD v2: 5-78260300-T-C
gnomAD v3: 5-78964477-T-C
gnomAD v4: 5-78964477-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78964477T>C , CM000667.2:g.78964477T>C GRCh38
NC_000005.9:g.78260300T>C , CM000667.1:g.78260300T>C GRCh37
NC_000005.8:g.78296056T>C NCBI36
NG_007089.1:g.27058A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.629A>G MANE Select ENSP00000264914.4:p.Tyr210Cys
ENST00000565165.2:c.629A>G ENSP00000456339.2:p.Tyr210Cys
ENST00000264914.8:c.629A>G ENSP00000264914.4:p.Tyr210Cys
ENST00000396151.7:c.629A>G ENSP00000379455.3:p.Tyr210Cys
ENST00000565165.1:c.629A>G ENSP00000456339.1:p.Tyr210Cys
NM_000046.3:c.629A>G NP_000037.2:p.Tyr210Cys
NM_198709.2:c.629A>G NP_942002.1:p.Tyr210Cys
XM_005248506.3:c.629A>G XP_005248563.1:p.Tyr210Cys
XM_006714615.2:c.629A>G XP_006714678.1:p.Tyr210Cys
XM_011543390.1:c.629A>G XP_011541692.1:p.Tyr210Cys
XM_011543391.1:c.629A>G XP_011541693.1:p.Tyr210Cys
XM_011543392.1:c.629A>G XP_011541694.1:p.Tyr210Cys
XM_011543393.1:c.629A>G XP_011541695.1:p.Tyr210Cys
NM_000046.4:c.629A>G NP_000037.2:p.Tyr210Cys
XM_011543391.3:c.629A>G XP_011541693.1:p.Tyr210Cys
XM_011543392.3:c.629A>G XP_011541694.1:p.Tyr210Cys
XM_011543393.2:c.629A>G XP_011541695.1:p.Tyr210Cys
XM_017009471.2:c.629A>G XP_016864960.1:p.Tyr210Cys
XR_001742065.2:n.700A>G
XR_001742066.2:n.700A>G
NM_000046.5:c.629A>G MANE Select NP_000037.2:p.Tyr210Cys
NM_198709.3:c.629A>G NP_942002.1:p.Tyr210Cys