Canonical Allele Identifier: CA2263905709
Community Standard Title: NM_000023.4(SGCA):c.574C= (p.Arg192=)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168562C= , CM000679.2:g.50168562C= GRCh38
NC_000017.10:g.48245923C= , CM000679.1:g.48245923C= GRCh37
NC_000017.9:g.45600922C= NCBI36
NG_008889.1:g.7558C= , LRG_203:g.7558C=

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.574C= MANE Select NP_000014.1:p.Arg192=
ENST00000262018.8:c.574C= MANE Select ENSP00000262018.3:p.Arg192=
NM_000023.2:c.574C= , LRG_203t1:c.574C= NP_000014.1:p.Arg192=
NM_000023.3:c.574C= NP_000014.1:p.Arg192=
NM_001135697.1:c.574C= NP_001129169.1:p.Arg192=
NM_001135697.2:c.574C= NP_001129169.1:p.Arg192=
NM_001135697.3:c.574C= NP_001129169.1:p.Arg192=
NR_135553.1:n.630C=
NR_135553.2:n.610C=
ENST00000262018.7:c.574C= ENSP00000262018.3:p.Arg192=
ENST00000344627.10:c.574C= ENSP00000345522.6:p.Arg192=
ENST00000502555.5:c.*233C= ENSP00000422817.1:n.*233C=
ENST00000504073.1:c.41C=
ENST00000504073.2:c.574C= ENSP00000422030.2:p.Arg192=
ENST00000511303.5:c.295C= ENSP00000426104.1:p.Arg99=
ENST00000511303.6:n.299C=
ENST00000512526.1:c.409C=
ENST00000512526.2:c.565C= ENSP00000426606.2:n.565C=
ENST00000513821.5:c.574C= ENSP00000426571.1:p.Arg192=
ENST00000513942.5:n.365C=
ENST00000514934.1:c.*280C= ENSP00000423168.1:n.*280C=
ENST00000682109.1:c.454C= ENSP00000508041.1:p.Arg152=
ENST00000683226.1:n.284C=
ENST00000683294.1:c.574C= ENSP00000508134.1:p.Arg192=
XM_011525120.1:c.574C= XP_011523422.1:p.Arg192=
XM_011525120.2:c.736C= XP_011523422.2:p.Arg246=
XM_011525121.1:c.574C= XP_011523423.1:p.Arg192=
XM_011525121.2:c.736C= XP_011523423.2:p.Arg246=
XM_011525122.1:c.574C= XP_011523424.1:p.Arg192=
XM_011525122.2:c.736C= XP_011523424.2:p.Arg246=
XM_011525123.1:c.574C= XP_011523425.1:p.Arg192=
XM_011525123.2:c.736C= XP_011523425.2:p.Arg246=
XM_011525124.1:c.268C= XP_011523426.1:p.Arg90=
XM_011525124.2:c.268C= XP_011523426.1:p.Arg90=
XM_024450873.1:c.268C= XP_024306641.1:p.Arg90=
XR_002958056.1:n.1092C=
XR_934517.1:n.640C=