Canonical Allele Identifier: CA114611

Gene: ARSB

Linked Data

• ClinVar Variation Id: 887
• ClinVar RCV Id: RCV000000935
• dbSNP Id: rs431905495
• gnomAD v2: 5-78135250-C-G
• gnomAD v3: 5-78839427-C-G
• gnomAD v4: 5-78839427-C-G
• MyVariant Identifiers: chr5:g.78135250C>G (hg19) ; chr5:g.78839427C>G (hg38)
• PubMed: PMID:17458871 ; PMID:17643332 ; PMID:18406185 ; PMID:26909334

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.78839427C>G , CM000667.2:g.78839427C>G	GRCh38
NC_000005.9:g.78135250C>G , CM000667.1:g.78135250C>G	GRCh37
NC_000005.8:g.78171006C>G	NCBI36
NG_007089.1:g.152108G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264914.10:c.1143-1G>C MANE Select	ENSP00000264914.4:n.1143-1G>C
ENST00000264914.8:c.1143-1G>C	ENSP00000264914.4:n.1143-1G>C
ENST00000396151.7:c.1143-1G>C	ENSP00000379455.3:n.1143-1G>C
ENST00000565165.1:c.1143-1G>C	ENSP00000456339.1:n.1143-1G>C
NM_000046.3:c.1143-1G>C	NP_000037.2:n.1143-1G>C
NM_198709.2:c.1143-1G>C	NP_942002.1:n.1143-1G>C
XM_005248506.3:c.1143-1G>C	XP_005248563.1:n.1143-1G>C
XM_011543390.1:c.1143-1G>C	XP_011541692.1:n.1143-1G>C
XM_011543391.1:c.1143-1G>C	XP_011541693.1:n.1143-1G>C
XM_011543392.1:c.1143-1G>C	XP_011541694.1:n.1143-1G>C
NM_000046.4:c.1143-1G>C	NP_000037.2:n.1143-1G>C
XM_011543391.3:c.1143-1G>C	XP_011541693.1:n.1143-1G>C
XM_011543392.3:c.1143-1G>C	XP_011541694.1:n.1143-1G>C
XM_017009471.2:c.1143-1G>C	XP_016864960.1:n.1143-1G>C
XR_001742065.2:n.1214-1G>C
XR_001742066.2:n.1214-1G>C
NM_000046.5:c.1143-1G>C MANE Select	NP_000037.2:n.1143-1G>C
NM_198709.3:c.1143-1G>C	NP_942002.1:n.1143-1G>C