Canonical Allele Identifier: CA360338896
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 2161808
ClinVar RCV Id: RCV003078759
dbSNP Id: rs1251438062
gnomAD v2: 5-78076283-G-T
gnomAD v4: 5-78780460-G-T
MyVariant Identifiers: chr5:g.78076283G>T (hg19) chr5:g.78780460G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780460G>T , CM000667.2:g.78780460G>T GRCh38
NC_000005.9:g.78076283G>T , CM000667.1:g.78076283G>T GRCh37
NC_000005.8:g.78112039G>T NCBI36
NG_007089.1:g.211075C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1539C>A MANE Select ENSP00000264914.4:p.Tyr513Ter
ENST00000264914.8:c.1539C>A ENSP00000264914.4:p.Tyr513Ter
ENST00000521011.1:n.504C>A
NM_000046.3:c.1539C>A NP_000037.2:p.Tyr513Ter
XM_011543390.1:c.1539C>A XP_011541692.1:p.Tyr513Ter
NM_000046.4:c.1539C>A NP_000037.2:p.Tyr513Ter
NM_000046.5:c.1539C>A MANE Select NP_000037.2:p.Tyr513Ter
Search 100 bp 5'
Search 100 bp 3'