Canonical Allele Identifier: CA8643946
Community Standard Title: NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170341C>T , CM000679.2:g.50170341C>T GRCh38
NC_000017.10:g.48247702C>T , CM000679.1:g.48247702C>T GRCh37
NC_000017.9:g.45602701C>T NCBI36
NG_008889.1:g.9337C>T , LRG_203:g.9337C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.946C>T MANE Select NP_000014.1:p.Arg316Trp
ENST00000262018.8:c.946C>T MANE Select ENSP00000262018.3:p.Arg316Trp
NM_000023.2:c.946C>T , LRG_203t1:c.946C>T NP_000014.1:p.Arg316Trp
NM_000023.3:c.946C>T NP_000014.1:p.Arg316Trp
NM_001135697.1:c.585-299C>T NP_001129169.1:n.585-299C>T
NM_001135697.2:c.585-299C>T NP_001129169.1:n.585-299C>T
NM_001135697.3:c.585-299C>T NP_001129169.1:n.585-299C>T
NR_135553.1:n.804-299C>T
NR_135553.2:n.784-299C>T
ENST00000262018.7:c.946C>T ENSP00000262018.3:p.Arg316Trp
ENST00000344627.10:c.585-299C>T ENSP00000345522.6:n.585-299C>T
ENST00000504073.1:c.263C>T
ENST00000504073.2:c.796C>T ENSP00000422030.2:p.Arg266Trp
ENST00000511303.5:c.306-299C>T ENSP00000426104.1:n.306-299C>T
ENST00000511303.6:n.310-299C>T
ENST00000512526.1:c.420-299C>T
ENST00000512526.2:c.576-299C>T ENSP00000426606.2:n.576-299C>T
ENST00000513821.5:c.748-299C>T ENSP00000426571.1:n.748-299C>T
ENST00000513942.5:n.376-299C>T
ENST00000682109.1:c.826C>T ENSP00000508041.1:p.Arg276Trp
ENST00000683226.1:n.1544C>T
ENST00000683294.1:c.*59+153C>T ENSP00000508134.1:n.*59+153C>T
ENST00000683544.1:n.312C>T
XM_011525120.1:c.946C>T XP_011523422.1:p.Arg316Trp
XM_011525120.2:c.1108C>T XP_011523422.2:p.Arg370Trp
XM_011525121.1:c.796C>T XP_011523423.1:p.Arg266Trp
XM_011525121.2:c.958C>T XP_011523423.2:p.Arg320Trp
XM_011525122.1:c.748-299C>T XP_011523424.1:n.748-299C>T
XM_011525122.2:c.910-299C>T XP_011523424.2:n.910-299C>T
XM_011525123.1:c.585-299C>T XP_011523425.1:n.585-299C>T
XM_011525123.2:c.747-299C>T XP_011523425.2:n.747-299C>T
XM_011525124.1:c.640C>T XP_011523426.1:p.Arg214Trp
XM_011525124.2:c.640C>T XP_011523426.1:p.Arg214Trp
XM_024450873.1:c.640C>T XP_024306641.1:p.Arg214Trp
XR_002958056.1:n.1543C>T
XR_934517.1:n.814-299C>T