Canonical Allele Identifier: CA121107804
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 496789
dbSNP Id: rs991104525
gnomAD v2: 5-78264874-G-A
gnomAD v3: 5-78969051-G-A
gnomAD v4: 5-78969051-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78969051G>A , CM000667.2:g.78969051G>A GRCh38
NC_000005.9:g.78264874G>A , CM000667.1:g.78264874G>A GRCh37
NC_000005.8:g.78300630G>A NCBI36
NG_007089.1:g.22484C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.454C>T MANE Select ENSP00000264914.4:p.Arg152Trp
ENST00000565165.2:c.454C>T ENSP00000456339.2:p.Arg152Trp
ENST00000264914.8:c.454C>T ENSP00000264914.4:p.Arg152Trp
ENST00000396151.7:c.454C>T ENSP00000379455.3:p.Arg152Trp
ENST00000565165.1:c.454C>T ENSP00000456339.1:p.Arg152Trp
NM_000046.3:c.454C>T NP_000037.2:p.Arg152Trp
NM_198709.2:c.454C>T NP_942002.1:p.Arg152Trp
XM_005248506.3:c.454C>T XP_005248563.1:p.Arg152Trp
XM_006714615.2:c.454C>T XP_006714678.1:p.Arg152Trp
XM_011543390.1:c.454C>T XP_011541692.1:p.Arg152Trp
XM_011543391.1:c.454C>T XP_011541693.1:p.Arg152Trp
XM_011543392.1:c.454C>T XP_011541694.1:p.Arg152Trp
XM_011543393.1:c.454C>T XP_011541695.1:p.Arg152Trp
NM_000046.4:c.454C>T NP_000037.2:p.Arg152Trp
XM_011543391.3:c.454C>T XP_011541693.1:p.Arg152Trp
XM_011543392.3:c.454C>T XP_011541694.1:p.Arg152Trp
XM_011543393.2:c.454C>T XP_011541695.1:p.Arg152Trp
XM_017009471.2:c.454C>T XP_016864960.1:p.Arg152Trp
XR_001742065.2:n.525C>T
XR_001742066.2:n.525C>T
NM_000046.5:c.454C>T MANE Select NP_000037.2:p.Arg152Trp
NM_198709.3:c.454C>T NP_942002.1:p.Arg152Trp