Canonical Allele Identifier: CA2263905428
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168024C= , CM000679.2:g.50168024C= GRCh38
NC_000017.10:g.48245385C= , CM000679.1:g.48245385C= GRCh37
NC_000017.9:g.45600384C= NCBI36
NG_008889.1:g.7020C= , LRG_203:g.7020C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.385+5C= ENSP00000422030.2:n.385+5C=
ENST00000511303.6:n.110+5C=
ENST00000512526.2:c.376+5C= ENSP00000426606.2:n.376+5C=
ENST00000682109.1:c.265+5C= ENSP00000508041.1:n.265+5C=
ENST00000683226.1:n.95+5C=
ENST00000683294.1:c.385+5C= ENSP00000508134.1:n.385+5C=
ENST00000262018.8:c.385+5C= MANE Select ENSP00000262018.3:n.385+5C=
ENST00000262018.7:c.385+5C= ENSP00000262018.3:n.385+5C=
ENST00000344627.10:c.385+5C= ENSP00000345522.6:n.385+5C=
ENST00000502555.5:c.*44+5C= ENSP00000422817.1:n.*44+5C=
ENST00000511303.5:c.106+5C= ENSP00000426104.1:n.106+5C=
ENST00000512526.1:c.220+5C=
ENST00000513821.5:c.385+5C= ENSP00000426571.1:n.385+5C=
ENST00000513942.5:n.176+5C=
ENST00000514934.1:c.*91+5C= ENSP00000423168.1:n.*91+5C=
NM_000023.2:c.385+5C= , LRG_203t1:c.385+5C= NP_000014.1:n.385+5C=
NM_001135697.1:c.385+5C= NP_001129169.1:n.385+5C=
XM_011525120.1:c.385+5C= XP_011523422.1:n.385+5C=
XM_011525121.1:c.385+5C= XP_011523423.1:n.385+5C=
XM_011525122.1:c.385+5C= XP_011523424.1:n.385+5C=
XM_011525123.1:c.385+5C= XP_011523425.1:n.385+5C=
XM_011525124.1:c.79+5C= XP_011523426.1:n.79+5C=
XR_934517.1:n.451+5C=
NM_000023.3:c.385+5C= NP_000014.1:n.385+5C=
NM_001135697.2:c.385+5C= NP_001129169.1:n.385+5C=
NR_135553.1:n.441+5C=
XM_011525120.2:c.547+5C= XP_011523422.2:n.547+5C=
XM_011525121.2:c.547+5C= XP_011523423.2:n.547+5C=
XM_011525122.2:c.547+5C= XP_011523424.2:n.547+5C=
XM_011525123.2:c.547+5C= XP_011523425.2:n.547+5C=
XM_011525124.2:c.79+5C= XP_011523426.1:n.79+5C=
XM_024450873.1:c.79+5C= XP_024306641.1:n.79+5C=
XR_002958056.1:n.903+5C=
NM_000023.4:c.385+5C= MANE Select NP_000014.1:n.385+5C=
NM_001135697.3:c.385+5C= NP_001129169.1:n.385+5C=
NR_135553.2:n.421+5C=