Canonical Allele Identifier: CA114601
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 878
dbSNP Id: rs118203939
gnomAD v2: 5-78264979-A-G
gnomAD v4: 5-78969156-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78969156A>G , CM000667.2:g.78969156A>G GRCh38
NC_000005.9:g.78264979A>G , CM000667.1:g.78264979A>G GRCh37
NC_000005.8:g.78300735A>G NCBI36
NG_007089.1:g.22379T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.349T>C MANE Select ENSP00000264914.4:p.Cys117Arg
ENST00000565165.2:c.349T>C ENSP00000456339.2:p.Cys117Arg
ENST00000264914.8:c.349T>C ENSP00000264914.4:p.Cys117Arg
ENST00000396151.7:c.349T>C ENSP00000379455.3:p.Cys117Arg
ENST00000565165.1:c.349T>C ENSP00000456339.1:p.Cys117Arg
NM_000046.3:c.349T>C NP_000037.2:p.Cys117Arg
NM_198709.2:c.349T>C NP_942002.1:p.Cys117Arg
XM_005248506.3:c.349T>C XP_005248563.1:p.Cys117Arg
XM_006714615.2:c.349T>C XP_006714678.1:p.Cys117Arg
XM_011543390.1:c.349T>C XP_011541692.1:p.Cys117Arg
XM_011543391.1:c.349T>C XP_011541693.1:p.Cys117Arg
XM_011543392.1:c.349T>C XP_011541694.1:p.Cys117Arg
XM_011543393.1:c.349T>C XP_011541695.1:p.Cys117Arg
NM_000046.4:c.349T>C NP_000037.2:p.Cys117Arg
XM_011543391.3:c.349T>C XP_011541693.1:p.Cys117Arg
XM_011543392.3:c.349T>C XP_011541694.1:p.Cys117Arg
XM_011543393.2:c.349T>C XP_011541695.1:p.Cys117Arg
XM_017009471.2:c.349T>C XP_016864960.1:p.Cys117Arg
XR_001742065.2:n.420T>C
XR_001742066.2:n.420T>C
NM_000046.5:c.349T>C MANE Select NP_000037.2:p.Cys117Arg
NM_198709.3:c.349T>C NP_942002.1:p.Cys117Arg