Canonical Allele Identifier: CA500829308
Community Standard Title: NM_000023.4(SGCA):c.747G>T (p.Leu249=)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50169254G>T , CM000679.2:g.50169254G>T GRCh38
NC_000017.10:g.48246615G>T , CM000679.1:g.48246615G>T GRCh37
NC_000017.9:g.45601614G>T NCBI36
NG_008889.1:g.8250G>T , LRG_203:g.8250G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.747G>T MANE Select NP_000014.1:p.Leu249=
ENST00000262018.8:c.747G>T MANE Select ENSP00000262018.3:p.Leu249=
NM_000023.2:c.747G>T , LRG_203t1:c.747G>T NP_000014.1:p.Leu249=
NM_000023.3:c.747G>T NP_000014.1:p.Leu249=
NM_001135697.1:c.584+682G>T NP_001129169.1:n.584+682G>T
NM_001135697.2:c.584+682G>T NP_001129169.1:n.584+682G>T
NM_001135697.3:c.584+682G>T NP_001129169.1:n.584+682G>T
NR_135553.1:n.803G>T
NR_135553.2:n.783G>T
ENST00000262018.7:c.747G>T ENSP00000262018.3:p.Leu249=
ENST00000344627.10:c.584+682G>T ENSP00000345522.6:n.584+682G>T
ENST00000502555.5:c.*406G>T ENSP00000422817.1:n.*406G>T
ENST00000504073.1:c.64+150G>T
ENST00000504073.2:c.597+150G>T ENSP00000422030.2:n.597+150G>T
ENST00000511303.5:c.305+682G>T ENSP00000426104.1:n.305+682G>T
ENST00000511303.6:n.309+682G>T
ENST00000512526.1:c.419+682G>T
ENST00000512526.2:c.575+682G>T ENSP00000426606.2:n.575+682G>T
ENST00000513821.5:c.747G>T ENSP00000426571.1:p.Leu249=
ENST00000513942.5:n.375+682G>T
ENST00000682109.1:c.627G>T ENSP00000508041.1:p.Leu209=
ENST00000683226.1:n.457G>T
ENST00000683294.1:c.747G>T ENSP00000508134.1:p.Leu249=
XM_011525120.1:c.747G>T XP_011523422.1:p.Leu249=
XM_011525120.2:c.909G>T XP_011523422.2:p.Leu303=
XM_011525121.1:c.597+150G>T XP_011523423.1:n.597+150G>T
XM_011525121.2:c.759+150G>T XP_011523423.2:n.759+150G>T
XM_011525122.1:c.747G>T XP_011523424.1:p.Leu249=
XM_011525122.2:c.909G>T XP_011523424.2:p.Leu303=
XM_011525123.1:c.584+682G>T XP_011523425.1:n.584+682G>T
XM_011525123.2:c.746+682G>T XP_011523425.2:n.746+682G>T
XM_011525124.1:c.441G>T XP_011523426.1:p.Leu147=
XM_011525124.2:c.441G>T XP_011523426.1:p.Leu147=
XM_024450873.1:c.441G>T XP_024306641.1:p.Leu147=
XR_002958056.1:n.1265G>T
XR_934517.1:n.813G>T