Canonical Allele Identifier: CA2263905698
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168537C= , CM000679.2:g.50168537C= GRCh38
NC_000017.10:g.48245898C= , CM000679.1:g.48245898C= GRCh37
NC_000017.9:g.45600897C= NCBI36
NG_008889.1:g.7533C= , LRG_203:g.7533C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.549C= ENSP00000422030.2:p.Gly183=
ENST00000511303.6:n.274C=
ENST00000512526.2:c.540C= ENSP00000426606.2:n.540C=
ENST00000682109.1:c.429C= ENSP00000508041.1:p.Gly143=
ENST00000683226.1:n.259C=
ENST00000683294.1:c.549C= ENSP00000508134.1:p.Gly183=
ENST00000262018.8:c.549C= MANE Select ENSP00000262018.3:p.Gly183=
ENST00000262018.7:c.549C= ENSP00000262018.3:p.Gly183=
ENST00000344627.10:c.549C= ENSP00000345522.6:p.Gly183=
ENST00000502555.5:c.*208C= ENSP00000422817.1:n.*208C=
ENST00000504073.1:c.16C=
ENST00000511303.5:c.270C= ENSP00000426104.1:p.Gly90=
ENST00000512526.1:c.384C=
ENST00000513821.5:c.549C= ENSP00000426571.1:p.Gly183=
ENST00000513942.5:n.340C=
ENST00000514934.1:c.*255C= ENSP00000423168.1:n.*255C=
NM_000023.2:c.549C= , LRG_203t1:c.549C= NP_000014.1:p.Gly183=
NM_001135697.1:c.549C= NP_001129169.1:p.Gly183=
XM_011525120.1:c.549C= XP_011523422.1:p.Gly183=
XM_011525121.1:c.549C= XP_011523423.1:p.Gly183=
XM_011525122.1:c.549C= XP_011523424.1:p.Gly183=
XM_011525123.1:c.549C= XP_011523425.1:p.Gly183=
XM_011525124.1:c.243C= XP_011523426.1:p.Gly81=
XR_934517.1:n.615C=
NM_000023.3:c.549C= NP_000014.1:p.Gly183=
NM_001135697.2:c.549C= NP_001129169.1:p.Gly183=
NR_135553.1:n.605C=
XM_011525120.2:c.711C= XP_011523422.2:p.Gly237=
XM_011525121.2:c.711C= XP_011523423.2:p.Gly237=
XM_011525122.2:c.711C= XP_011523424.2:p.Gly237=
XM_011525123.2:c.711C= XP_011523425.2:p.Gly237=
XM_011525124.2:c.243C= XP_011523426.1:p.Gly81=
XM_024450873.1:c.243C= XP_024306641.1:p.Gly81=
XR_002958056.1:n.1067C=
NM_000023.4:c.549C= MANE Select NP_000014.1:p.Gly183=
NM_001135697.3:c.549C= NP_001129169.1:p.Gly183=
NR_135553.2:n.585C=