Canonical Allele Identifier: CA400182317

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170352G>A , CM000679.2:g.50170352G>A	GRCh38
NC_000017.10:g.48247713G>A , CM000679.1:g.48247713G>A	GRCh37
NC_000017.9:g.45602712G>A	NCBI36
NG_008889.1:g.9348G>A , LRG_203:g.9348G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.956+1G>A MANE Select	NP_000014.1:n.956+1G>A
ENST00000262018.8:c.956+1G>A MANE Select	ENSP00000262018.3:n.956+1G>A
NM_000023.2:c.956+1G>A , LRG_203t1:c.956+1G>A	NP_000014.1:n.956+1G>A
NM_000023.3:c.956+1G>A	NP_000014.1:n.956+1G>A
NM_001135697.1:c.585-288G>A	NP_001129169.1:n.585-288G>A
NM_001135697.2:c.585-288G>A	NP_001129169.1:n.585-288G>A
NM_001135697.3:c.585-288G>A	NP_001129169.1:n.585-288G>A
NR_135553.1:n.804-288G>A
NR_135553.2:n.784-288G>A
ENST00000262018.7:c.956+1G>A	ENSP00000262018.3:n.956+1G>A
ENST00000344627.10:c.585-288G>A	ENSP00000345522.6:n.585-288G>A
ENST00000504073.1:c.273+1G>A
ENST00000504073.2:c.806+1G>A	ENSP00000422030.2:n.806+1G>A
ENST00000511303.5:c.306-288G>A	ENSP00000426104.1:n.306-288G>A
ENST00000511303.6:n.310-288G>A
ENST00000512526.1:c.420-288G>A
ENST00000512526.2:c.576-288G>A	ENSP00000426606.2:n.576-288G>A
ENST00000513821.5:c.748-288G>A	ENSP00000426571.1:n.748-288G>A
ENST00000513942.5:n.376-288G>A
ENST00000682109.1:c.836+1G>A	ENSP00000508041.1:n.836+1G>A
ENST00000683226.1:n.1554+1G>A
ENST00000683294.1:c.*59+164G>A	ENSP00000508134.1:n.*59+164G>A
ENST00000683544.1:n.323G>A
XM_011525120.1:c.956+1G>A	XP_011523422.1:n.956+1G>A
XM_011525120.2:c.1118+1G>A	XP_011523422.2:n.1118+1G>A
XM_011525121.1:c.806+1G>A	XP_011523423.1:n.806+1G>A
XM_011525121.2:c.968+1G>A	XP_011523423.2:n.968+1G>A
XM_011525122.1:c.748-288G>A	XP_011523424.1:n.748-288G>A
XM_011525122.2:c.910-288G>A	XP_011523424.2:n.910-288G>A
XM_011525123.1:c.585-288G>A	XP_011523425.1:n.585-288G>A
XM_011525123.2:c.747-288G>A	XP_011523425.2:n.747-288G>A
XM_011525124.1:c.650+1G>A	XP_011523426.1:n.650+1G>A
XM_011525124.2:c.650+1G>A	XP_011523426.1:n.650+1G>A
XM_024450873.1:c.650+1G>A	XP_024306641.1:n.650+1G>A
XR_002958056.1:n.1553+1G>A
XR_934517.1:n.814-288G>A