Canonical Allele Identifier: CA400182061
Community Standard Title: NM_000023.4(SGCA):c.828C>A (p.Cys276Ter)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170223C>A , CM000679.2:g.50170223C>A GRCh38
NC_000017.10:g.48247584C>A , CM000679.1:g.48247584C>A GRCh37
NC_000017.9:g.45602583C>A NCBI36
NG_008889.1:g.9219C>A , LRG_203:g.9219C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.828C>A MANE Select NP_000014.1:p.Cys276Ter
ENST00000262018.8:c.828C>A MANE Select ENSP00000262018.3:p.Cys276Ter
NM_000023.2:c.828C>A , LRG_203t1:c.828C>A NP_000014.1:p.Cys276Ter
NM_000023.3:c.828C>A NP_000014.1:p.Cys276Ter
NM_001135697.1:c.585-417C>A NP_001129169.1:n.585-417C>A
NM_001135697.2:c.585-417C>A NP_001129169.1:n.585-417C>A
NM_001135697.3:c.585-417C>A NP_001129169.1:n.585-417C>A
NR_135553.1:n.804-417C>A
NR_135553.2:n.784-417C>A
ENST00000262018.7:c.828C>A ENSP00000262018.3:p.Cys276Ter
ENST00000344627.10:c.585-417C>A ENSP00000345522.6:n.585-417C>A
ENST00000504073.1:c.145C>A
ENST00000504073.2:c.678C>A ENSP00000422030.2:p.Cys226Ter
ENST00000511303.5:c.306-417C>A ENSP00000426104.1:n.306-417C>A
ENST00000511303.6:n.310-417C>A
ENST00000512526.1:c.420-417C>A
ENST00000512526.2:c.576-417C>A ENSP00000426606.2:n.576-417C>A
ENST00000513821.5:c.748-417C>A ENSP00000426571.1:n.748-417C>A
ENST00000513942.5:n.376-417C>A
ENST00000682109.1:c.708C>A ENSP00000508041.1:p.Cys236Ter
ENST00000683226.1:n.1426C>A
ENST00000683294.1:c.*59+35C>A ENSP00000508134.1:n.*59+35C>A
ENST00000683544.1:n.194C>A
XM_011525120.1:c.828C>A XP_011523422.1:p.Cys276Ter
XM_011525120.2:c.990C>A XP_011523422.2:p.Cys330Ter
XM_011525121.1:c.678C>A XP_011523423.1:p.Cys226Ter
XM_011525121.2:c.840C>A XP_011523423.2:p.Cys280Ter
XM_011525122.1:c.748-417C>A XP_011523424.1:n.748-417C>A
XM_011525122.2:c.910-417C>A XP_011523424.2:n.910-417C>A
XM_011525123.1:c.585-417C>A XP_011523425.1:n.585-417C>A
XM_011525123.2:c.747-417C>A XP_011523425.2:n.747-417C>A
XM_011525124.1:c.522C>A XP_011523426.1:p.Cys174Ter
XM_011525124.2:c.522C>A XP_011523426.1:p.Cys174Ter
XM_024450873.1:c.522C>A XP_024306641.1:p.Cys174Ter
XR_002958056.1:n.1425C>A
XR_934517.1:n.814-417C>A