Canonical Allele Identifier: CA3317995

Gene: ARSB

Linked Data

• ClinVar Variation Id: 354307
• ClinVar RCV Id: RCV000361881 ; RCV000675200 ; RCV003972487
• dbSNP Id: rs35757003
• ExAC: 5:78076460 C / T
• gnomAD v2: 5-78076460-C-T
• gnomAD v3: 5-78780637-C-T
• gnomAD v4: 5-78780637-C-T
• MyVariant Identifiers: chr5:g.78076460C>T (hg19) ; chr5:g.78780637C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78780637C>T , CM000667.2:g.78780637C>T	GRCh38
NC_000005.9:g.78076460C>T , CM000667.1:g.78076460C>T	GRCh37
NC_000005.8:g.78112216C>T	NCBI36
NG_007089.1:g.210898G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1362G>A MANE Select	ENSP00000264914.4:p.Pro454=
ENST00000264914.8:c.1362G>A	ENSP00000264914.4:p.Pro454=
ENST00000521011.1:n.327G>A
NM_000046.3:c.1362G>A	NP_000037.2:p.Pro454=
XM_011543390.1:c.1362G>A	XP_011541692.1:p.Pro454=
NM_000046.4:c.1362G>A	NP_000037.2:p.Pro454=
NM_000046.5:c.1362G>A MANE Select	NP_000037.2:p.Pro454=