Canonical Allele Identifier: CA2263905171
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167722C= , CM000679.2:g.50167722C= GRCh38
NC_000017.10:g.48245083C= , CM000679.1:g.48245083C= GRCh37
NC_000017.9:g.45600082C= NCBI36
NG_008889.1:g.6718C= , LRG_203:g.6718C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.298C= ENSP00000422030.2:p.Leu100=
ENST00000511303.6:n.38-225C=
ENST00000512526.2:c.298C= ENSP00000426606.2:p.Leu100=
ENST00000682109.1:c.178C= ENSP00000508041.1:p.Leu60=
ENST00000683226.1:n.8C=
ENST00000683294.1:c.298C= ENSP00000508134.1:p.Leu100=
ENST00000262018.8:c.298C= MANE Select ENSP00000262018.3:p.Leu100=
ENST00000262018.7:c.298C= ENSP00000262018.3:p.Leu100=
ENST00000344627.10:c.298C= ENSP00000345522.6:p.Leu100=
ENST00000502555.5:c.158-225C= ENSP00000422817.1:n.158-225C=
ENST00000511303.5:c.34-225C= ENSP00000426104.1:n.34-225C=
ENST00000512526.1:c.142C=
ENST00000513821.5:c.298C= ENSP00000426571.1:p.Leu100=
ENST00000513942.5:n.104-225C=
ENST00000514934.1:c.*19-225C= ENSP00000423168.1:n.*19-225C=
NM_000023.2:c.298C= , LRG_203t1:c.298C= NP_000014.1:p.Leu100=
NM_001135697.1:c.298C= NP_001129169.1:p.Leu100=
XM_011525120.1:c.298C= XP_011523422.1:p.Leu100=
XM_011525121.1:c.298C= XP_011523423.1:p.Leu100=
XM_011525122.1:c.298C= XP_011523424.1:p.Leu100=
XM_011525123.1:c.298C= XP_011523425.1:p.Leu100=
XM_011525124.1:c.7-225C= XP_011523426.1:n.7-225C=
XR_934517.1:n.364C=
NM_000023.3:c.298C= NP_000014.1:p.Leu100=
NM_001135697.2:c.298C= NP_001129169.1:p.Leu100=
NR_135553.1:n.354C=
XM_011525120.2:c.460C= XP_011523422.2:p.Leu154=
XM_011525121.2:c.460C= XP_011523423.2:p.Leu154=
XM_011525122.2:c.460C= XP_011523424.2:p.Leu154=
XM_011525123.2:c.460C= XP_011523425.2:p.Leu154=
XM_011525124.2:c.7-225C= XP_011523426.1:n.7-225C=
XM_024450873.1:c.7-225C= XP_024306641.1:n.7-225C=
XR_002958056.1:n.816C=
NM_000023.4:c.298C= MANE Select NP_000014.1:p.Leu100=
NM_001135697.3:c.298C= NP_001129169.1:p.Leu100=
NR_135553.2:n.334C=