Canonical Allele Identifier: CA3317966

Gene: ARSB

Linked Data

• ClinVar Variation Id: 354303
• ClinVar RCV Id: RCV000404292 ; RCV003922560
• dbSNP Id: rs528157833
• ExAC: 5:78076289 G / A
• gnomAD v2: 5-78076289-G-A
• gnomAD v3: 5-78780466-G-A
• gnomAD v4: 5-78780466-G-A
• COSMIC: COSM5518591
• MyVariant Identifiers: chr5:g.78076289G>A (hg19) ; chr5:g.78780466G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78780466G>A , CM000667.2:g.78780466G>A	GRCh38
NC_000005.9:g.78076289G>A , CM000667.1:g.78076289G>A	GRCh37
NC_000005.8:g.78112045G>A	NCBI36
NG_007089.1:g.211069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1533C>T MANE Select	ENSP00000264914.4:p.Pro511=
ENST00000264914.8:c.1533C>T	ENSP00000264914.4:p.Pro511=
ENST00000521011.1:n.498C>T
NM_000046.3:c.1533C>T	NP_000037.2:p.Pro511=
XM_011543390.1:c.1533C>T	XP_011541692.1:p.Pro511=
NM_000046.4:c.1533C>T	NP_000037.2:p.Pro511=
NM_000046.5:c.1533C>T MANE Select	NP_000037.2:p.Pro511=