Canonical Allele Identifier: CA10605322

Gene: SGCA

Linked Data

• ClinVar Variation Id: 285980
• ClinVar RCV Id: RCV000388314 ; RCV003509524
• dbSNP Id: rs752695991
• MyVariant Identifiers: chr17:g.48246454G>A (hg19) ; chr17:g.50169093G>A (hg38)
• PubMed: PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169093G>A , CM000679.2:g.50169093G>A	GRCh38
NC_000017.10:g.48246454G>A , CM000679.1:g.48246454G>A	GRCh37
NC_000017.9:g.45601453G>A	NCBI36
NG_008889.1:g.8089G>A , LRG_203:g.8089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.586G>A	ENSP00000422030.2:p.Val196Ile
ENST00000511303.6:n.309+521G>A
ENST00000512526.2:c.575+521G>A	ENSP00000426606.2:n.575+521G>A
ENST00000682109.1:c.466G>A	ENSP00000508041.1:p.Val156Ile
ENST00000683226.1:n.296G>A
ENST00000683294.1:c.586G>A	ENSP00000508134.1:p.Val196Ile
ENST00000262018.8:c.586G>A MANE Select	ENSP00000262018.3:p.Val196Ile
ENST00000262018.7:c.586G>A	ENSP00000262018.3:p.Val196Ile
ENST00000344627.10:c.584+521G>A	ENSP00000345522.6:n.584+521G>A
ENST00000502555.5:c.*245G>A	ENSP00000422817.1:n.*245G>A
ENST00000504073.1:c.53G>A
ENST00000511303.5:c.305+521G>A	ENSP00000426104.1:n.305+521G>A
ENST00000512526.1:c.419+521G>A
ENST00000513821.5:c.586G>A	ENSP00000426571.1:p.Val196Ile
ENST00000513942.5:n.375+521G>A
NM_000023.2:c.586G>A , LRG_203t1:c.586G>A	NP_000014.1:p.Val196Ile
NM_001135697.1:c.584+521G>A	NP_001129169.1:n.584+521G>A
XM_011525120.1:c.586G>A	XP_011523422.1:p.Val196Ile
XM_011525121.1:c.586G>A	XP_011523423.1:p.Val196Ile
XM_011525122.1:c.586G>A	XP_011523424.1:p.Val196Ile
XM_011525123.1:c.584+521G>A	XP_011523425.1:n.584+521G>A
XM_011525124.1:c.280G>A	XP_011523426.1:p.Val94Ile
XR_934517.1:n.652G>A
NM_000023.3:c.586G>A	NP_000014.1:p.Val196Ile
NM_001135697.2:c.584+521G>A	NP_001129169.1:n.584+521G>A
NR_135553.1:n.642G>A
XM_011525120.2:c.748G>A	XP_011523422.2:p.Val250Ile
XM_011525121.2:c.748G>A	XP_011523423.2:p.Val250Ile
XM_011525122.2:c.748G>A	XP_011523424.2:p.Val250Ile
XM_011525123.2:c.746+521G>A	XP_011523425.2:n.746+521G>A
XM_011525124.2:c.280G>A	XP_011523426.1:p.Val94Ile
XM_024450873.1:c.280G>A	XP_024306641.1:p.Val94Ile
XR_002958056.1:n.1104G>A
NM_000023.4:c.586G>A MANE Select	NP_000014.1:p.Val196Ile
NM_001135697.3:c.584+521G>A	NP_001129169.1:n.584+521G>A
NR_135553.2:n.622G>A