Canonical Allele Identifier: CA2263906548
Community Standard Title: NM_000023.4(SGCA):c.850C= (p.Arg284=)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170245C= , CM000679.2:g.50170245C= GRCh38
NC_000017.10:g.48247606C= , CM000679.1:g.48247606C= GRCh37
NC_000017.9:g.45602605C= NCBI36
NG_008889.1:g.9241C= , LRG_203:g.9241C=

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.850C= MANE Select NP_000014.1:p.Arg284=
ENST00000262018.8:c.850C= MANE Select ENSP00000262018.3:p.Arg284=
NM_000023.2:c.850C= , LRG_203t1:c.850C= NP_000014.1:p.Arg284=
NM_000023.3:c.850C= NP_000014.1:p.Arg284=
NM_001135697.1:c.585-395C= NP_001129169.1:n.585-395C=
NM_001135697.2:c.585-395C= NP_001129169.1:n.585-395C=
NM_001135697.3:c.585-395C= NP_001129169.1:n.585-395C=
NR_135553.1:n.804-395C=
NR_135553.2:n.784-395C=
ENST00000262018.7:c.850C= ENSP00000262018.3:p.Arg284=
ENST00000344627.10:c.585-395C= ENSP00000345522.6:n.585-395C=
ENST00000504073.1:c.167C=
ENST00000504073.2:c.700C= ENSP00000422030.2:p.Arg234=
ENST00000511303.5:c.306-395C= ENSP00000426104.1:n.306-395C=
ENST00000511303.6:n.310-395C=
ENST00000512526.1:c.420-395C=
ENST00000512526.2:c.576-395C= ENSP00000426606.2:n.576-395C=
ENST00000513821.5:c.748-395C= ENSP00000426571.1:n.748-395C=
ENST00000513942.5:n.376-395C=
ENST00000682109.1:c.730C= ENSP00000508041.1:p.Arg244=
ENST00000683226.1:n.1448C=
ENST00000683294.1:c.*59+57C= ENSP00000508134.1:n.*59+57C=
ENST00000683544.1:n.216C=
XM_011525120.1:c.850C= XP_011523422.1:p.Arg284=
XM_011525120.2:c.1012C= XP_011523422.2:p.Arg338=
XM_011525121.1:c.700C= XP_011523423.1:p.Arg234=
XM_011525121.2:c.862C= XP_011523423.2:p.Arg288=
XM_011525122.1:c.748-395C= XP_011523424.1:n.748-395C=
XM_011525122.2:c.910-395C= XP_011523424.2:n.910-395C=
XM_011525123.1:c.585-395C= XP_011523425.1:n.585-395C=
XM_011525123.2:c.747-395C= XP_011523425.2:n.747-395C=
XM_011525124.1:c.544C= XP_011523426.1:p.Arg182=
XM_011525124.2:c.544C= XP_011523426.1:p.Arg182=
XM_024450873.1:c.544C= XP_024306641.1:p.Arg182=
XR_002958056.1:n.1447C=
XR_934517.1:n.814-395C=