Canonical Allele Identifier: CA445400284
Gene: ARSB HGNC NCBI

Linked Data

ClinVar Variation Id: 1109946
ClinVar RCV Id: RCV001436021
dbSNP Id: rs1158401003
MyVariant Identifiers: chr5:g.78076274T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.78780451T>G , CM000667.2:g.78780451T>G GRCh38
NC_000005.9:g.78076274T>G , CM000667.1:g.78076274T>G GRCh37
NC_000005.8:g.78112030T>G NCBI36
NG_007089.1:g.211084A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264914.10:c.1548A>C MANE Select ENSP00000264914.4:p.Ala516=
ENST00000264914.8:c.1548A>C ENSP00000264914.4:p.Ala516=
ENST00000521011.1:n.513A>C
NM_000046.3:c.1548A>C NP_000037.2:p.Ala516=
XM_011543390.1:c.1548A>C XP_011541692.1:p.Ala516=
NM_000046.4:c.1548A>C NP_000037.2:p.Ala516=
NM_000046.5:c.1548A>C MANE Select NP_000037.2:p.Ala516=
Search 100 bp 5'
Search 100 bp 3'