Canonical Allele Identifier: CA400184157
Community Standard Title: NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50175327G>T , CM000679.2:g.50175327G>T GRCh38
NC_000017.10:g.48252688G>T , CM000679.1:g.48252688G>T GRCh37
NC_000017.9:g.45607687G>T NCBI36
NG_008889.1:g.14323G>T , LRG_203:g.14323G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.1054G>T (SGCA) MANE Select NP_000014.1:p.Glu352Ter
ENST00000262018.8:c.1054G>T (SGCA) MANE Select ENSP00000262018.3:p.Glu352Ter
NM_000023.2:c.1054G>T , LRG_203t1:c.1054G>T (SGCA) NP_000014.1:p.Glu352Ter
NM_000023.3:c.1054G>T (SGCA) NP_000014.1:p.Glu352Ter
NM_001135697.1:c.682G>T (SGCA) NP_001129169.1:p.Glu228Ter
NM_001135697.2:c.682G>T (SGCA) NP_001129169.1:p.Glu228Ter
NM_001135697.3:c.682G>T (SGCA) NP_001129169.1:p.Glu228Ter
NR_135553.1:n.901G>T (SGCA)
NR_135553.2:n.881G>T (SGCA)
ENST00000262018.7:c.1054G>T (SGCA) ENSP00000262018.3:p.Glu352Ter
ENST00000344627.10:c.682G>T (SGCA) ENSP00000345522.6:p.Glu228Ter
ENST00000504073.1:c.371G>T (SGCA)
ENST00000504073.2:c.904G>T (SGCA) ENSP00000422030.2:p.Glu302Ter
ENST00000504307.1:n.470-3150C>A (H1-9P)
ENST00000504307.2:n.492-3150C>A (H1-9P)
ENST00000504307.3:n.547-3150C>A (H1-9P)
ENST00000505964.1:n.155G>T (SGCA)
ENST00000508382.1:n.99G>T (SGCA)
ENST00000511303.5:c.403G>T (SGCA) ENSP00000426104.1:p.Glu135Ter
ENST00000511303.6:n.407G>T (SGCA)
ENST00000512526.1:c.517G>T (SGCA)
ENST00000512526.2:c.673G>T (SGCA) ENSP00000426606.2:n.673G>T
ENST00000513821.5:c.845G>T (SGCA) ENSP00000426571.1:p.Arg282Leu
ENST00000513942.5:n.473G>T (SGCA)
ENST00000682109.1:c.934G>T (SGCA) ENSP00000508041.1:p.Glu312Ter
ENST00000683226.1:n.1652G>T (SGCA)
ENST00000683294.1:c.*157G>T (SGCA) ENSP00000508134.1:n.*157G>T
ENST00000683544.1:n.708G>T (SGCA)
XM_011525120.1:c.1054G>T (SGCA) XP_011523422.1:p.Glu352Ter
XM_011525120.2:c.1216G>T (SGCA) XP_011523422.2:p.Glu406Ter
XM_011525121.1:c.904G>T (SGCA) XP_011523423.1:p.Glu302Ter
XM_011525121.2:c.1066G>T (SGCA) XP_011523423.2:p.Glu356Ter
XM_011525122.1:c.845G>T (SGCA) XP_011523424.1:p.Arg282Leu
XM_011525122.2:c.1007G>T (SGCA) XP_011523424.2:p.Arg336Leu
XM_011525123.1:c.682G>T (SGCA) XP_011523425.1:p.Glu228Ter
XM_011525123.2:c.844G>T (SGCA) XP_011523425.2:p.Glu282Ter
XM_011525124.1:c.748G>T (SGCA) XP_011523426.1:p.Glu250Ter
XM_011525124.2:c.748G>T (SGCA) XP_011523426.1:p.Glu250Ter
XM_024450873.1:c.748G>T (SGCA) XP_024306641.1:p.Glu250Ter
XR_002958056.1:n.1651G>T (SGCA)
XR_934517.1:n.911G>T (SGCA)