Canonical Allele Identifier: CA400181263
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170148T>G , CM000679.2:g.50170148T>G GRCh38
NC_000017.10:g.48247509T>G , CM000679.1:g.48247509T>G GRCh37
NC_000017.9:g.45602508T>G NCBI36
NG_008889.1:g.9144T>G , LRG_203:g.9144T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.603T>G ENSP00000422030.2:p.Asp201Glu
ENST00000511303.6:n.310-492T>G
ENST00000512526.2:c.576-492T>G ENSP00000426606.2:n.576-492T>G
ENST00000682109.1:c.633T>G ENSP00000508041.1:p.Asp211Glu
ENST00000683226.1:n.1351T>G
ENST00000683294.1:c.*19T>G ENSP00000508134.1:n.*19T>G
ENST00000683544.1:n.119T>G
ENST00000262018.8:c.753T>G MANE Select ENSP00000262018.3:p.Asp251Glu
ENST00000262018.7:c.753T>G ENSP00000262018.3:p.Asp251Glu
ENST00000344627.10:c.585-492T>G ENSP00000345522.6:n.585-492T>G
ENST00000504073.1:c.70T>G
ENST00000511303.5:c.306-492T>G ENSP00000426104.1:n.306-492T>G
ENST00000512526.1:c.420-492T>G
ENST00000513821.5:c.748-492T>G ENSP00000426571.1:n.748-492T>G
ENST00000513942.5:n.376-492T>G
NM_000023.2:c.753T>G , LRG_203t1:c.753T>G NP_000014.1:p.Asp251Glu
NM_001135697.1:c.585-492T>G NP_001129169.1:n.585-492T>G
XM_011525120.1:c.753T>G XP_011523422.1:p.Asp251Glu
XM_011525121.1:c.603T>G XP_011523423.1:p.Asp201Glu
XM_011525122.1:c.748-492T>G XP_011523424.1:n.748-492T>G
XM_011525123.1:c.585-492T>G XP_011523425.1:n.585-492T>G
XM_011525124.1:c.447T>G XP_011523426.1:p.Asp149Glu
XR_934517.1:n.814-492T>G
NM_000023.3:c.753T>G NP_000014.1:p.Asp251Glu
NM_001135697.2:c.585-492T>G NP_001129169.1:n.585-492T>G
NR_135553.1:n.804-492T>G
XM_011525120.2:c.915T>G XP_011523422.2:p.Asp305Glu
XM_011525121.2:c.765T>G XP_011523423.2:p.Asp255Glu
XM_011525122.2:c.910-492T>G XP_011523424.2:n.910-492T>G
XM_011525123.2:c.747-492T>G XP_011523425.2:n.747-492T>G
XM_011525124.2:c.447T>G XP_011523426.1:p.Asp149Glu
XM_024450873.1:c.447T>G XP_024306641.1:p.Asp149Glu
XR_002958056.1:n.1350T>G
NM_000023.4:c.753T>G MANE Select NP_000014.1:p.Asp251Glu
NM_001135697.3:c.585-492T>G NP_001129169.1:n.585-492T>G
NR_135553.2:n.784-492T>G