Canonical Allele Identifier: CA203189

Gene: SGCA

Linked Data

• ClinVar Variation Id: 167677
• ClinVar RCV Id: RCV000179241 ; RCV000710212 ; RCV000779226 ; RCV002271422 ; RCV002252007
• dbSNP Id: rs143570936
• ExAC: 17:48246607 G / A
• gnomAD v2: 17-48246607-G-A
• gnomAD v3: 17-50169246-G-A
• gnomAD v4: 17-50169246-G-A
• MyVariant Identifiers: chr17:g.48246607G>A (hg19) ; chr17:g.50169246G>A (hg38)
• PubMed: PMID:7663524 ; PMID:9153448 ; PMID:10942431 ; PMID:12566530 ; PMID:15298081 ; PMID:17994539 ; PMID:18285821 ; PMID:18535179 ; PMID:18996010 ; PMID:21031578 ; PMID:22095924 ; PMID:23891399 ; PMID:24565866 ; PMID:25135358

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169246G>A , CM000679.2:g.50169246G>A	GRCh38
NC_000017.10:g.48246607G>A , CM000679.1:g.48246607G>A	GRCh37
NC_000017.9:g.45601606G>A	NCBI36
NG_008889.1:g.8242G>A , LRG_203:g.8242G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.597+142G>A	ENSP00000422030.2:n.597+142G>A
ENST00000511303.6:n.309+674G>A
ENST00000512526.2:c.575+674G>A	ENSP00000426606.2:n.575+674G>A
ENST00000682109.1:c.619G>A	ENSP00000508041.1:p.Val207Met
ENST00000683226.1:n.449G>A
ENST00000683294.1:c.739G>A	ENSP00000508134.1:p.Val247Met
ENST00000262018.8:c.739G>A MANE Select	ENSP00000262018.3:p.Val247Met
ENST00000262018.7:c.739G>A	ENSP00000262018.3:p.Val247Met
ENST00000344627.10:c.584+674G>A	ENSP00000345522.6:n.584+674G>A
ENST00000502555.5:c.*398G>A	ENSP00000422817.1:n.*398G>A
ENST00000504073.1:c.64+142G>A
ENST00000511303.5:c.305+674G>A	ENSP00000426104.1:n.305+674G>A
ENST00000512526.1:c.419+674G>A
ENST00000513821.5:c.739G>A	ENSP00000426571.1:p.Val247Met
ENST00000513942.5:n.375+674G>A
NM_000023.2:c.739G>A , LRG_203t1:c.739G>A	NP_000014.1:p.Val247Met
NM_001135697.1:c.584+674G>A	NP_001129169.1:n.584+674G>A
XM_011525120.1:c.739G>A	XP_011523422.1:p.Val247Met
XM_011525121.1:c.597+142G>A	XP_011523423.1:n.597+142G>A
XM_011525122.1:c.739G>A	XP_011523424.1:p.Val247Met
XM_011525123.1:c.584+674G>A	XP_011523425.1:n.584+674G>A
XM_011525124.1:c.433G>A	XP_011523426.1:p.Val145Met
XR_934517.1:n.805G>A
NM_000023.3:c.739G>A	NP_000014.1:p.Val247Met
NM_001135697.2:c.584+674G>A	NP_001129169.1:n.584+674G>A
NR_135553.1:n.795G>A
XM_011525120.2:c.901G>A	XP_011523422.2:p.Val301Met
XM_011525121.2:c.759+142G>A	XP_011523423.2:n.759+142G>A
XM_011525122.2:c.901G>A	XP_011523424.2:p.Val301Met
XM_011525123.2:c.746+674G>A	XP_011523425.2:n.746+674G>A
XM_011525124.2:c.433G>A	XP_011523426.1:p.Val145Met
XM_024450873.1:c.433G>A	XP_024306641.1:p.Val145Met
XR_002958056.1:n.1257G>A
NM_000023.4:c.739G>A MANE Select	NP_000014.1:p.Val247Met
NM_001135697.3:c.584+674G>A	NP_001129169.1:n.584+674G>A
NR_135553.2:n.775G>A