Canonical Allele Identifier: CA8643777

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167988G>A , CM000679.2:g.50167988G>A	GRCh38
NC_000017.10:g.48245349G>A , CM000679.1:g.48245349G>A	GRCh37
NC_000017.9:g.45600348G>A	NCBI36
NG_008889.1:g.6984G>A , LRG_203:g.6984G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.354G>A MANE Select	NP_000014.1:p.Gln118=
ENST00000262018.8:c.354G>A MANE Select	ENSP00000262018.3:p.Gln118=
NM_000023.2:c.354G>A , LRG_203t1:c.354G>A	NP_000014.1:p.Gln118=
NM_000023.3:c.354G>A	NP_000014.1:p.Gln118=
NM_001135697.1:c.354G>A	NP_001129169.1:p.Gln118=
NM_001135697.2:c.354G>A	NP_001129169.1:p.Gln118=
NM_001135697.3:c.354G>A	NP_001129169.1:p.Gln118=
NR_135553.1:n.410G>A
NR_135553.2:n.390G>A
ENST00000262018.7:c.354G>A	ENSP00000262018.3:p.Gln118=
ENST00000344627.10:c.354G>A	ENSP00000345522.6:p.Gln118=
ENST00000502555.5:c.*13G>A	ENSP00000422817.1:n.*13G>A
ENST00000504073.2:c.354G>A	ENSP00000422030.2:p.Gln118=
ENST00000511303.5:c.75G>A	ENSP00000426104.1:p.Gln25=
ENST00000511303.6:n.79G>A
ENST00000512526.1:c.189G>A
ENST00000512526.2:c.345G>A	ENSP00000426606.2:n.345G>A
ENST00000513821.5:c.354G>A	ENSP00000426571.1:p.Gln118=
ENST00000513942.5:n.145G>A
ENST00000514934.1:c.*60G>A	ENSP00000423168.1:n.*60G>A
ENST00000682109.1:c.234G>A	ENSP00000508041.1:p.Gln78=
ENST00000683226.1:n.64G>A
ENST00000683294.1:c.354G>A	ENSP00000508134.1:p.Gln118=
XM_011525120.1:c.354G>A	XP_011523422.1:p.Gln118=
XM_011525120.2:c.516G>A	XP_011523422.2:p.Gln172=
XM_011525121.1:c.354G>A	XP_011523423.1:p.Gln118=
XM_011525121.2:c.516G>A	XP_011523423.2:p.Gln172=
XM_011525122.1:c.354G>A	XP_011523424.1:p.Gln118=
XM_011525122.2:c.516G>A	XP_011523424.2:p.Gln172=
XM_011525123.1:c.354G>A	XP_011523425.1:p.Gln118=
XM_011525123.2:c.516G>A	XP_011523425.2:p.Gln172=
XM_011525124.1:c.48G>A	XP_011523426.1:p.Gln16=
XM_011525124.2:c.48G>A	XP_011523426.1:p.Gln16=
XM_024450873.1:c.48G>A	XP_024306641.1:p.Gln16=
XR_002958056.1:n.872G>A
XR_934517.1:n.420G>A