Canonical Allele Identifier: CA400178837
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168003G>T , CM000679.2:g.50168003G>T GRCh38
NC_000017.10:g.48245364G>T , CM000679.1:g.48245364G>T GRCh37
NC_000017.9:g.45600363G>T NCBI36
NG_008889.1:g.6999G>T , LRG_203:g.6999G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.369G>T ENSP00000422030.2:p.Glu123Asp
ENST00000511303.6:n.94G>T
ENST00000512526.2:c.360G>T ENSP00000426606.2:n.360G>T
ENST00000682109.1:c.249G>T ENSP00000508041.1:p.Glu83Asp
ENST00000683226.1:n.79G>T
ENST00000683294.1:c.369G>T ENSP00000508134.1:p.Glu123Asp
ENST00000262018.8:c.369G>T MANE Select ENSP00000262018.3:p.Glu123Asp
ENST00000262018.7:c.369G>T ENSP00000262018.3:p.Glu123Asp
ENST00000344627.10:c.369G>T ENSP00000345522.6:p.Glu123Asp
ENST00000502555.5:c.*28G>T ENSP00000422817.1:n.*28G>T
ENST00000511303.5:c.90G>T ENSP00000426104.1:p.Glu30Asp
ENST00000512526.1:c.204G>T
ENST00000513821.5:c.369G>T ENSP00000426571.1:p.Glu123Asp
ENST00000513942.5:n.160G>T
ENST00000514934.1:c.*75G>T ENSP00000423168.1:n.*75G>T
NM_000023.2:c.369G>T , LRG_203t1:c.369G>T NP_000014.1:p.Glu123Asp
NM_001135697.1:c.369G>T NP_001129169.1:p.Glu123Asp
XM_011525120.1:c.369G>T XP_011523422.1:p.Glu123Asp
XM_011525121.1:c.369G>T XP_011523423.1:p.Glu123Asp
XM_011525122.1:c.369G>T XP_011523424.1:p.Glu123Asp
XM_011525123.1:c.369G>T XP_011523425.1:p.Glu123Asp
XM_011525124.1:c.63G>T XP_011523426.1:p.Glu21Asp
XR_934517.1:n.435G>T
NM_000023.3:c.369G>T NP_000014.1:p.Glu123Asp
NM_001135697.2:c.369G>T NP_001129169.1:p.Glu123Asp
NR_135553.1:n.425G>T
XM_011525120.2:c.531G>T XP_011523422.2:p.Glu177Asp
XM_011525121.2:c.531G>T XP_011523423.2:p.Glu177Asp
XM_011525122.2:c.531G>T XP_011523424.2:p.Glu177Asp
XM_011525123.2:c.531G>T XP_011523425.2:p.Glu177Asp
XM_011525124.2:c.63G>T XP_011523426.1:p.Glu21Asp
XM_024450873.1:c.63G>T XP_024306641.1:p.Glu21Asp
XR_002958056.1:n.887G>T
NM_000023.4:c.369G>T MANE Select NP_000014.1:p.Glu123Asp
NM_001135697.3:c.369G>T NP_001129169.1:p.Glu123Asp
NR_135553.2:n.405G>T