Canonical Allele Identifier: CA3317976
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 907763
ClinVar RCV Id: RCV001157843
dbSNP Id: rs138643812
ExAC: 5:78076339 C / T
gnomAD v2: 5-78076339-C-T
gnomAD v3: 5-78780516-C-T
gnomAD v4: 5-78780516-C-T
COSMIC: COSM196736
MyVariant Identifiers: chr5:g.78076339C>T (hg19) chr5:g.78780516C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780516C>T , CM000667.2:g.78780516C>T GRCh38
NC_000005.9:g.78076339C>T , CM000667.1:g.78076339C>T GRCh37
NC_000005.8:g.78112095C>T NCBI36
NG_007089.1:g.211019G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264914.10:c.1483G>A MANE Select ENSP00000264914.4:p.Val495Ile
ENST00000264914.8:c.1483G>A ENSP00000264914.4:p.Val495Ile
ENST00000521011.1:n.448G>A
NM_000046.3:c.1483G>A NP_000037.2:p.Val495Ile
XM_011543390.1:c.1483G>A XP_011541692.1:p.Val495Ile
NM_000046.4:c.1483G>A NP_000037.2:p.Val495Ile
NM_000046.5:c.1483G>A MANE Select NP_000037.2:p.Val495Ile
Search 100 bp 5'
Search 100 bp 3'