Canonical Allele Identifier: CA2263906037
Community Standard Title: NM_000023.4(SGCA):c.739G= (p.Val247=)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50169246G= , CM000679.2:g.50169246G= GRCh38
NC_000017.10:g.48246607G= , CM000679.1:g.48246607G= GRCh37
NC_000017.9:g.45601606G= NCBI36
NG_008889.1:g.8242G= , LRG_203:g.8242G=

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.739G= MANE Select NP_000014.1:p.Val247=
ENST00000262018.8:c.739G= MANE Select ENSP00000262018.3:p.Val247=
NM_000023.2:c.739G= , LRG_203t1:c.739G= NP_000014.1:p.Val247=
NM_000023.3:c.739G= NP_000014.1:p.Val247=
NM_001135697.1:c.584+674G= NP_001129169.1:n.584+674G=
NM_001135697.2:c.584+674G= NP_001129169.1:n.584+674G=
NM_001135697.3:c.584+674G= NP_001129169.1:n.584+674G=
NR_135553.1:n.795G=
NR_135553.2:n.775G=
ENST00000262018.7:c.739G= ENSP00000262018.3:p.Val247=
ENST00000344627.10:c.584+674G= ENSP00000345522.6:n.584+674G=
ENST00000502555.5:c.*398G= ENSP00000422817.1:n.*398G=
ENST00000504073.1:c.64+142G=
ENST00000504073.2:c.597+142G= ENSP00000422030.2:n.597+142G=
ENST00000511303.5:c.305+674G= ENSP00000426104.1:n.305+674G=
ENST00000511303.6:n.309+674G=
ENST00000512526.1:c.419+674G=
ENST00000512526.2:c.575+674G= ENSP00000426606.2:n.575+674G=
ENST00000513821.5:c.739G= ENSP00000426571.1:p.Val247=
ENST00000513942.5:n.375+674G=
ENST00000682109.1:c.619G= ENSP00000508041.1:p.Val207=
ENST00000683226.1:n.449G=
ENST00000683294.1:c.739G= ENSP00000508134.1:p.Val247=
XM_011525120.1:c.739G= XP_011523422.1:p.Val247=
XM_011525120.2:c.901G= XP_011523422.2:p.Val301=
XM_011525121.1:c.597+142G= XP_011523423.1:n.597+142G=
XM_011525121.2:c.759+142G= XP_011523423.2:n.759+142G=
XM_011525122.1:c.739G= XP_011523424.1:p.Val247=
XM_011525122.2:c.901G= XP_011523424.2:p.Val301=
XM_011525123.1:c.584+674G= XP_011523425.1:n.584+674G=
XM_011525123.2:c.746+674G= XP_011523425.2:n.746+674G=
XM_011525124.1:c.433G= XP_011523426.1:p.Val145=
XM_011525124.2:c.433G= XP_011523426.1:p.Val145=
XM_024450873.1:c.433G= XP_024306641.1:p.Val145=
XR_002958056.1:n.1257G=
XR_934517.1:n.805G=