Canonical Allele Identifier: CA8643828

Gene: SGCA

Linked Data

• ClinVar Variation Id: 289773
• ClinVar RCV Id: RCV000360924 ; RCV001086806 ; RCV001122691
• dbSNP Id: rs201518390
• ExAC: 17:48245904 C / A
• gnomAD v2: 17-48245904-C-A
• gnomAD v3: 17-50168543-C-A
• gnomAD v4: 17-50168543-C-A
• MyVariant Identifiers: chr17:g.48245904C>A (hg19) ; chr17:g.50168543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168543C>A , CM000679.2:g.50168543C>A	GRCh38
NC_000017.10:g.48245904C>A , CM000679.1:g.48245904C>A	GRCh37
NC_000017.9:g.45600903C>A	NCBI36
NG_008889.1:g.7539C>A , LRG_203:g.7539C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.555C>A	ENSP00000422030.2:p.Val185=
ENST00000511303.6:n.280C>A
ENST00000512526.2:c.546C>A	ENSP00000426606.2:n.546C>A
ENST00000682109.1:c.435C>A	ENSP00000508041.1:p.Val145=
ENST00000683226.1:n.265C>A
ENST00000683294.1:c.555C>A	ENSP00000508134.1:p.Val185=
ENST00000262018.8:c.555C>A MANE Select	ENSP00000262018.3:p.Val185=
ENST00000262018.7:c.555C>A	ENSP00000262018.3:p.Val185=
ENST00000344627.10:c.555C>A	ENSP00000345522.6:p.Val185=
ENST00000502555.5:c.*214C>A	ENSP00000422817.1:n.*214C>A
ENST00000504073.1:c.22C>A
ENST00000511303.5:c.276C>A	ENSP00000426104.1:p.Val92=
ENST00000512526.1:c.390C>A
ENST00000513821.5:c.555C>A	ENSP00000426571.1:p.Val185=
ENST00000513942.5:n.346C>A
ENST00000514934.1:c.*261C>A	ENSP00000423168.1:n.*261C>A
NM_000023.2:c.555C>A , LRG_203t1:c.555C>A	NP_000014.1:p.Val185=
NM_001135697.1:c.555C>A	NP_001129169.1:p.Val185=
XM_011525120.1:c.555C>A	XP_011523422.1:p.Val185=
XM_011525121.1:c.555C>A	XP_011523423.1:p.Val185=
XM_011525122.1:c.555C>A	XP_011523424.1:p.Val185=
XM_011525123.1:c.555C>A	XP_011523425.1:p.Val185=
XM_011525124.1:c.249C>A	XP_011523426.1:p.Val83=
XR_934517.1:n.621C>A
NM_000023.3:c.555C>A	NP_000014.1:p.Val185=
NM_001135697.2:c.555C>A	NP_001129169.1:p.Val185=
NR_135553.1:n.611C>A
XM_011525120.2:c.717C>A	XP_011523422.2:p.Val239=
XM_011525121.2:c.717C>A	XP_011523423.2:p.Val239=
XM_011525122.2:c.717C>A	XP_011523424.2:p.Val239=
XM_011525123.2:c.717C>A	XP_011523425.2:p.Val239=
XM_011525124.2:c.249C>A	XP_011523426.1:p.Val83=
XM_024450873.1:c.249C>A	XP_024306641.1:p.Val83=
XR_002958056.1:n.1073C>A
NM_000023.4:c.555C>A MANE Select	NP_000014.1:p.Val185=
NM_001135697.3:c.555C>A	NP_001129169.1:p.Val185=
NR_135553.2:n.591C>A