Canonical Allele Identifier: CA121104145
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 488679
dbSNP Id: rs371886102
gnomAD v3: 5-78964535-G-A
gnomAD v4: 5-78964535-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78964535G>A , CM000667.2:g.78964535G>A GRCh38
NC_000005.9:g.78260358G>A , CM000667.1:g.78260358G>A GRCh37
NC_000005.8:g.78296114G>A NCBI36
NG_007089.1:g.27000C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.571C>T MANE Select ENSP00000264914.4:p.Arg191Ter
ENST00000565165.2:c.571C>T ENSP00000456339.2:p.Arg191Ter
ENST00000264914.8:c.571C>T ENSP00000264914.4:p.Arg191Ter
ENST00000396151.7:c.571C>T ENSP00000379455.3:p.Arg191Ter
ENST00000565165.1:c.571C>T ENSP00000456339.1:p.Arg191Ter
NM_000046.3:c.571C>T NP_000037.2:p.Arg191Ter
NM_198709.2:c.571C>T NP_942002.1:p.Arg191Ter
XM_005248506.3:c.571C>T XP_005248563.1:p.Arg191Ter
XM_006714615.2:c.571C>T XP_006714678.1:p.Arg191Ter
XM_011543390.1:c.571C>T XP_011541692.1:p.Arg191Ter
XM_011543391.1:c.571C>T XP_011541693.1:p.Arg191Ter
XM_011543392.1:c.571C>T XP_011541694.1:p.Arg191Ter
XM_011543393.1:c.571C>T XP_011541695.1:p.Arg191Ter
NM_000046.4:c.571C>T NP_000037.2:p.Arg191Ter
XM_011543391.3:c.571C>T XP_011541693.1:p.Arg191Ter
XM_011543392.3:c.571C>T XP_011541694.1:p.Arg191Ter
XM_011543393.2:c.571C>T XP_011541695.1:p.Arg191Ter
XM_017009471.2:c.571C>T XP_016864960.1:p.Arg191Ter
XR_001742065.2:n.642C>T
XR_001742066.2:n.642C>T
NM_000046.5:c.571C>T MANE Select NP_000037.2:p.Arg191Ter
NM_198709.3:c.571C>T NP_942002.1:p.Arg191Ter