Canonical Allele Identifier: CA400180124
Gene: SGCA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168555T>G , CM000679.2:g.50168555T>G GRCh38
NC_000017.10:g.48245916T>G , CM000679.1:g.48245916T>G GRCh37
NC_000017.9:g.45600915T>G NCBI36
NG_008889.1:g.7551T>G , LRG_203:g.7551T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.567T>G ENSP00000422030.2:p.Ile189Met
ENST00000511303.6:n.292T>G
ENST00000512526.2:c.558T>G ENSP00000426606.2:n.558T>G
ENST00000682109.1:c.447T>G ENSP00000508041.1:p.Ile149Met
ENST00000683226.1:n.277T>G
ENST00000683294.1:c.567T>G ENSP00000508134.1:p.Ile189Met
ENST00000262018.8:c.567T>G MANE Select ENSP00000262018.3:p.Ile189Met
ENST00000262018.7:c.567T>G ENSP00000262018.3:p.Ile189Met
ENST00000344627.10:c.567T>G ENSP00000345522.6:p.Ile189Met
ENST00000502555.5:c.*226T>G ENSP00000422817.1:n.*226T>G
ENST00000504073.1:c.34T>G
ENST00000511303.5:c.288T>G ENSP00000426104.1:p.Ile96Met
ENST00000512526.1:c.402T>G
ENST00000513821.5:c.567T>G ENSP00000426571.1:p.Ile189Met
ENST00000513942.5:n.358T>G
ENST00000514934.1:c.*273T>G ENSP00000423168.1:n.*273T>G
NM_000023.2:c.567T>G , LRG_203t1:c.567T>G NP_000014.1:p.Ile189Met
NM_001135697.1:c.567T>G NP_001129169.1:p.Ile189Met
XM_011525120.1:c.567T>G XP_011523422.1:p.Ile189Met
XM_011525121.1:c.567T>G XP_011523423.1:p.Ile189Met
XM_011525122.1:c.567T>G XP_011523424.1:p.Ile189Met
XM_011525123.1:c.567T>G XP_011523425.1:p.Ile189Met
XM_011525124.1:c.261T>G XP_011523426.1:p.Ile87Met
XR_934517.1:n.633T>G
NM_000023.3:c.567T>G NP_000014.1:p.Ile189Met
NM_001135697.2:c.567T>G NP_001129169.1:p.Ile189Met
NR_135553.1:n.623T>G
XM_011525120.2:c.729T>G XP_011523422.2:p.Ile243Met
XM_011525121.2:c.729T>G XP_011523423.2:p.Ile243Met
XM_011525122.2:c.729T>G XP_011523424.2:p.Ile243Met
XM_011525123.2:c.729T>G XP_011523425.2:p.Ile243Met
XM_011525124.2:c.261T>G XP_011523426.1:p.Ile87Met
XM_024450873.1:c.261T>G XP_024306641.1:p.Ile87Met
XR_002958056.1:n.1085T>G
NM_000023.4:c.567T>G MANE Select NP_000014.1:p.Ile189Met
NM_001135697.3:c.567T>G NP_001129169.1:p.Ile189Met
NR_135553.2:n.603T>G