Canonical Allele Identifier: CA2263905703
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168544C= , CM000679.2:g.50168544C= GRCh38
NC_000017.10:g.48245905C= , CM000679.1:g.48245905C= GRCh37
NC_000017.9:g.45600904C= NCBI36
NG_008889.1:g.7540C= , LRG_203:g.7540C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.556C= ENSP00000422030.2:p.Pro186=
ENST00000511303.6:n.281C=
ENST00000512526.2:c.547C= ENSP00000426606.2:n.547C=
ENST00000682109.1:c.436C= ENSP00000508041.1:p.Pro146=
ENST00000683226.1:n.266C=
ENST00000683294.1:c.556C= ENSP00000508134.1:p.Pro186=
ENST00000262018.8:c.556C= MANE Select ENSP00000262018.3:p.Pro186=
ENST00000262018.7:c.556C= ENSP00000262018.3:p.Pro186=
ENST00000344627.10:c.556C= ENSP00000345522.6:p.Pro186=
ENST00000502555.5:c.*215C= ENSP00000422817.1:n.*215C=
ENST00000504073.1:c.23C=
ENST00000511303.5:c.277C= ENSP00000426104.1:p.Pro93=
ENST00000512526.1:c.391C=
ENST00000513821.5:c.556C= ENSP00000426571.1:p.Pro186=
ENST00000513942.5:n.347C=
ENST00000514934.1:c.*262C= ENSP00000423168.1:n.*262C=
NM_000023.2:c.556C= , LRG_203t1:c.556C= NP_000014.1:p.Pro186=
NM_001135697.1:c.556C= NP_001129169.1:p.Pro186=
XM_011525120.1:c.556C= XP_011523422.1:p.Pro186=
XM_011525121.1:c.556C= XP_011523423.1:p.Pro186=
XM_011525122.1:c.556C= XP_011523424.1:p.Pro186=
XM_011525123.1:c.556C= XP_011523425.1:p.Pro186=
XM_011525124.1:c.250C= XP_011523426.1:p.Pro84=
XR_934517.1:n.622C=
NM_000023.3:c.556C= NP_000014.1:p.Pro186=
NM_001135697.2:c.556C= NP_001129169.1:p.Pro186=
NR_135553.1:n.612C=
XM_011525120.2:c.718C= XP_011523422.2:p.Pro240=
XM_011525121.2:c.718C= XP_011523423.2:p.Pro240=
XM_011525122.2:c.718C= XP_011523424.2:p.Pro240=
XM_011525123.2:c.718C= XP_011523425.2:p.Pro240=
XM_011525124.2:c.250C= XP_011523426.1:p.Pro84=
XM_024450873.1:c.250C= XP_024306641.1:p.Pro84=
XR_002958056.1:n.1074C=
NM_000023.4:c.556C= MANE Select NP_000014.1:p.Pro186=
NM_001135697.3:c.556C= NP_001129169.1:p.Pro186=
NR_135553.2:n.592C=