Canonical Allele Identifier: CA2263905622
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168395C= , CM000679.2:g.50168395C= GRCh38
NC_000017.10:g.48245756C= , CM000679.1:g.48245756C= GRCh37
NC_000017.9:g.45600755C= NCBI36
NG_008889.1:g.7391C= , LRG_203:g.7391C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.407C= ENSP00000422030.2:p.Ala136=
ENST00000511303.6:n.132C=
ENST00000512526.2:c.398C= ENSP00000426606.2:n.398C=
ENST00000682109.1:c.287C= ENSP00000508041.1:p.Ala96=
ENST00000683226.1:n.117C=
ENST00000683294.1:c.407C= ENSP00000508134.1:p.Ala136=
ENST00000262018.8:c.407C= MANE Select ENSP00000262018.3:p.Ala136=
ENST00000262018.7:c.407C= ENSP00000262018.3:p.Ala136=
ENST00000344627.10:c.407C= ENSP00000345522.6:p.Ala136=
ENST00000502555.5:c.*66C= ENSP00000422817.1:n.*66C=
ENST00000511303.5:c.128C= ENSP00000426104.1:p.Ala43=
ENST00000512526.1:c.242C=
ENST00000513821.5:c.407C= ENSP00000426571.1:p.Ala136=
ENST00000513942.5:n.198C=
ENST00000514934.1:c.*113C= ENSP00000423168.1:n.*113C=
NM_000023.2:c.407C= , LRG_203t1:c.407C= NP_000014.1:p.Ala136=
NM_001135697.1:c.407C= NP_001129169.1:p.Ala136=
XM_011525120.1:c.407C= XP_011523422.1:p.Ala136=
XM_011525121.1:c.407C= XP_011523423.1:p.Ala136=
XM_011525122.1:c.407C= XP_011523424.1:p.Ala136=
XM_011525123.1:c.407C= XP_011523425.1:p.Ala136=
XM_011525124.1:c.101C= XP_011523426.1:p.Ala34=
XR_934517.1:n.473C=
NM_000023.3:c.407C= NP_000014.1:p.Ala136=
NM_001135697.2:c.407C= NP_001129169.1:p.Ala136=
NR_135553.1:n.463C=
XM_011525120.2:c.569C= XP_011523422.2:p.Ala190=
XM_011525121.2:c.569C= XP_011523423.2:p.Ala190=
XM_011525122.2:c.569C= XP_011523424.2:p.Ala190=
XM_011525123.2:c.569C= XP_011523425.2:p.Ala190=
XM_011525124.2:c.101C= XP_011523426.1:p.Ala34=
XM_024450873.1:c.101C= XP_024306641.1:p.Ala34=
XR_002958056.1:n.925C=
NM_000023.4:c.407C= MANE Select NP_000014.1:p.Ala136=
NM_001135697.3:c.407C= NP_001129169.1:p.Ala136=
NR_135553.2:n.443C=