Canonical Allele Identifier: CA233482

Gene: ARSB

Linked Data

• ClinVar Variation Id: 166694
• ClinVar RCV Id: RCV000152796 ; RCV000664046 ; RCV003415996
• dbSNP Id: rs727503809
• ExAC: 5:78181605 C / T
• gnomAD v2: 5-78181605-C-T
• gnomAD v4: 5-78885782-C-T
• MyVariant Identifiers: chr5:g.78181605C>T (hg19) ; chr5:g.78885782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885782C>T , CM000667.2:g.78885782C>T	GRCh38
NC_000005.9:g.78181605C>T , CM000667.1:g.78181605C>T	GRCh37
NC_000005.8:g.78217361C>T	NCBI36
NG_007089.1:g.105753G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.944G>A MANE Select	ENSP00000264914.4:p.Arg315Gln
ENST00000521800.2:n.126G>A
ENST00000565165.2:c.944G>A	ENSP00000456339.2:p.Arg315Gln
ENST00000264914.8:c.944G>A	ENSP00000264914.4:p.Arg315Gln
ENST00000396151.7:c.944G>A	ENSP00000379455.3:p.Arg315Gln
ENST00000521800.1:n.49G>A
ENST00000565165.1:c.944G>A	ENSP00000456339.1:p.Arg315Gln
NM_000046.3:c.944G>A	NP_000037.2:p.Arg315Gln
NM_198709.2:c.944G>A	NP_942002.1:p.Arg315Gln
XM_005248506.3:c.944G>A	XP_005248563.1:p.Arg315Gln
XM_011543390.1:c.944G>A	XP_011541692.1:p.Arg315Gln
XM_011543391.1:c.944G>A	XP_011541693.1:p.Arg315Gln
XM_011543392.1:c.944G>A	XP_011541694.1:p.Arg315Gln
XM_011543393.1:c.944G>A	XP_011541695.1:p.Arg315Gln
NM_000046.4:c.944G>A	NP_000037.2:p.Arg315Gln
XM_011543391.3:c.944G>A	XP_011541693.1:p.Arg315Gln
XM_011543392.3:c.944G>A	XP_011541694.1:p.Arg315Gln
XM_011543393.2:c.944G>A	XP_011541695.1:p.Arg315Gln
XM_017009471.2:c.944G>A	XP_016864960.1:p.Arg315Gln
XR_001742065.2:n.1015G>A
XR_001742066.2:n.1015G>A
NM_000046.5:c.944G>A MANE Select	NP_000037.2:p.Arg315Gln
NM_198709.3:c.944G>A	NP_942002.1:p.Arg315Gln