Canonical Allele Identifier: CA114603

Gene: ARSB

Linked Data

• ClinVar Variation Id: 880
• ClinVar RCV Id: RCV000000928 ; RCV000179701 ; RCV000723435 ; RCV000779751
• dbSNP Id: rs118203941
• ExAC: 5:78077797 C / T
• gnomAD v2: 5-78077797-C-T
• gnomAD v3: 5-78781974-C-T
• gnomAD v4: 5-78781974-C-T
• MyVariant Identifiers: chr5:g.78077797C>T (hg19) ; chr5:g.78781974C>T (hg38)
• PubMed: PMID:1550123 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78781974C>T , CM000667.2:g.78781974C>T	GRCh38
NC_000005.9:g.78077797C>T , CM000667.1:g.78077797C>T	GRCh37
NC_000005.8:g.78113553C>T	NCBI36
NG_007089.1:g.209561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1214G>A MANE Select	ENSP00000264914.4:p.Cys405Tyr
ENST00000264914.8:c.1214G>A	ENSP00000264914.4:p.Cys405Tyr
ENST00000521011.1:n.179G>A
NM_000046.3:c.1214G>A	NP_000037.2:p.Cys405Tyr
XM_011543390.1:c.1214G>A	XP_011541692.1:p.Cys405Tyr
NM_000046.4:c.1214G>A	NP_000037.2:p.Cys405Tyr
XR_001742066.2:n.1466G>A
NM_000046.5:c.1214G>A MANE Select	NP_000037.2:p.Cys405Tyr