Canonical Allele Identifier: CA220286

Gene: ARSB

Linked Data

• ClinVar Variation Id: 92355
• ClinVar RCV Id: RCV000078004 ; RCV002514369
• dbSNP Id: rs398123124
• gnomAD v2: 5-78181615-A-G
• gnomAD v3: 5-78885792-A-G
• gnomAD v4: 5-78885792-A-G
• MyVariant Identifiers: chr5:g.78181615A>G (hg19) ; chr5:g.78885792A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78885792A>G , CM000667.2:g.78885792A>G	GRCh38
NC_000005.9:g.78181615A>G , CM000667.1:g.78181615A>G	GRCh37
NC_000005.8:g.78217371A>G	NCBI36
NG_007089.1:g.105743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.934T>C MANE Select	ENSP00000264914.4:p.Trp312Arg
ENST00000521800.2:n.116T>C
ENST00000565165.2:c.934T>C	ENSP00000456339.2:p.Trp312Arg
ENST00000264914.8:c.934T>C	ENSP00000264914.4:p.Trp312Arg
ENST00000396151.7:c.934T>C	ENSP00000379455.3:p.Trp312Arg
ENST00000521800.1:n.39T>C
ENST00000565165.1:c.934T>C	ENSP00000456339.1:p.Trp312Arg
NM_000046.3:c.934T>C	NP_000037.2:p.Trp312Arg
NM_198709.2:c.934T>C	NP_942002.1:p.Trp312Arg
XM_005248506.3:c.934T>C	XP_005248563.1:p.Trp312Arg
XM_011543390.1:c.934T>C	XP_011541692.1:p.Trp312Arg
XM_011543391.1:c.934T>C	XP_011541693.1:p.Trp312Arg
XM_011543392.1:c.934T>C	XP_011541694.1:p.Trp312Arg
XM_011543393.1:c.934T>C	XP_011541695.1:p.Trp312Arg
NM_000046.4:c.934T>C	NP_000037.2:p.Trp312Arg
XM_011543391.3:c.934T>C	XP_011541693.1:p.Trp312Arg
XM_011543392.3:c.934T>C	XP_011541694.1:p.Trp312Arg
XM_011543393.2:c.934T>C	XP_011541695.1:p.Trp312Arg
XM_017009471.2:c.934T>C	XP_016864960.1:p.Trp312Arg
XR_001742065.2:n.1005T>C
XR_001742066.2:n.1005T>C
NM_000046.5:c.934T>C MANE Select	NP_000037.2:p.Trp312Arg
NM_198709.3:c.934T>C	NP_942002.1:p.Trp312Arg