Canonical Allele Identifier: CA772786425

Gene: SGCA

Linked Data

• dbSNP Id: rs1427247366
• gnomAD v3: 17-50169956-A-G
• gnomAD v4: 17-50169956-A-G
• MyVariant Identifiers: chr17:g.48247317A>G (hg19) ; chr17:g.50169956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169956A>G , CM000679.2:g.50169956A>G	GRCh38
NC_000017.10:g.48247317A>G , CM000679.1:g.48247317A>G	GRCh37
NC_000017.9:g.45602316A>G	NCBI36
NG_008889.1:g.8952A>G , LRG_203:g.8952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-187A>G	ENSP00000422030.2:n.598-187A>G
ENST00000511303.6:n.310-684A>G
ENST00000512526.2:c.576-684A>G	ENSP00000426606.2:n.576-684A>G
ENST00000682109.1:c.628-187A>G	ENSP00000508041.1:n.628-187A>G
ENST00000683226.1:n.1159A>G
ENST00000683294.1:c.748-108A>G	ENSP00000508134.1:n.748-108A>G
ENST00000262018.8:c.748-187A>G MANE Select	ENSP00000262018.3:n.748-187A>G
ENST00000262018.7:c.748-187A>G	ENSP00000262018.3:n.748-187A>G
ENST00000344627.10:c.585-684A>G	ENSP00000345522.6:n.585-684A>G
ENST00000502555.5:c.*1108A>G	ENSP00000422817.1:n.*1108A>G
ENST00000504073.1:c.65-187A>G
ENST00000511303.5:c.306-684A>G	ENSP00000426104.1:n.306-684A>G
ENST00000512526.1:c.420-684A>G
ENST00000513821.5:c.748-684A>G	ENSP00000426571.1:n.748-684A>G
ENST00000513942.5:n.376-684A>G
NM_000023.2:c.748-187A>G , LRG_203t1:c.748-187A>G	NP_000014.1:n.748-187A>G
NM_001135697.1:c.585-684A>G	NP_001129169.1:n.585-684A>G
XM_011525120.1:c.748-187A>G	XP_011523422.1:n.748-187A>G
XM_011525121.1:c.598-187A>G	XP_011523423.1:n.598-187A>G
XM_011525122.1:c.748-684A>G	XP_011523424.1:n.748-684A>G
XM_011525123.1:c.585-684A>G	XP_011523425.1:n.585-684A>G
XM_011525124.1:c.442-187A>G	XP_011523426.1:n.442-187A>G
XR_934517.1:n.814-684A>G
NM_000023.3:c.748-187A>G	NP_000014.1:n.748-187A>G
NM_001135697.2:c.585-684A>G	NP_001129169.1:n.585-684A>G
NR_135553.1:n.804-684A>G
XM_011525120.2:c.910-187A>G	XP_011523422.2:n.910-187A>G
XM_011525121.2:c.760-187A>G	XP_011523423.2:n.760-187A>G
XM_011525122.2:c.910-684A>G	XP_011523424.2:n.910-684A>G
XM_011525123.2:c.747-684A>G	XP_011523425.2:n.747-684A>G
XM_011525124.2:c.442-187A>G	XP_011523426.1:n.442-187A>G
XM_024450873.1:c.442-187A>G	XP_024306641.1:n.442-187A>G
XR_002958056.1:n.1266-108A>G
NM_000023.4:c.748-187A>G MANE Select	NP_000014.1:n.748-187A>G
NM_001135697.3:c.585-684A>G	NP_001129169.1:n.585-684A>G
NR_135553.2:n.784-684A>G