Canonical Allele Identifier: CA400180368
Community Standard Title: NM_000023.4(SGCA):c.601G>A (p.Gly201Ser)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50169108G>A , CM000679.2:g.50169108G>A GRCh38
NC_000017.10:g.48246469G>A , CM000679.1:g.48246469G>A GRCh37
NC_000017.9:g.45601468G>A NCBI36
NG_008889.1:g.8104G>A , LRG_203:g.8104G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.601G>A MANE Select NP_000014.1:p.Gly201Ser
ENST00000262018.8:c.601G>A MANE Select ENSP00000262018.3:p.Gly201Ser
NM_000023.2:c.601G>A , LRG_203t1:c.601G>A NP_000014.1:p.Gly201Ser
NM_000023.3:c.601G>A NP_000014.1:p.Gly201Ser
NM_001135697.1:c.584+536G>A NP_001129169.1:n.584+536G>A
NM_001135697.2:c.584+536G>A NP_001129169.1:n.584+536G>A
NM_001135697.3:c.584+536G>A NP_001129169.1:n.584+536G>A
NR_135553.1:n.657G>A
NR_135553.2:n.637G>A
ENST00000262018.7:c.601G>A ENSP00000262018.3:p.Gly201Ser
ENST00000344627.10:c.584+536G>A ENSP00000345522.6:n.584+536G>A
ENST00000502555.5:c.*260G>A ENSP00000422817.1:n.*260G>A
ENST00000504073.1:c.64+4G>A
ENST00000504073.2:c.597+4G>A ENSP00000422030.2:n.597+4G>A
ENST00000511303.5:c.305+536G>A ENSP00000426104.1:n.305+536G>A
ENST00000511303.6:n.309+536G>A
ENST00000512526.1:c.419+536G>A
ENST00000512526.2:c.575+536G>A ENSP00000426606.2:n.575+536G>A
ENST00000513821.5:c.601G>A ENSP00000426571.1:p.Gly201Ser
ENST00000513942.5:n.375+536G>A
ENST00000682109.1:c.481G>A ENSP00000508041.1:p.Gly161Ser
ENST00000683226.1:n.311G>A
ENST00000683294.1:c.601G>A ENSP00000508134.1:p.Gly201Ser
XM_011525120.1:c.601G>A XP_011523422.1:p.Gly201Ser
XM_011525120.2:c.763G>A XP_011523422.2:p.Gly255Ser
XM_011525121.1:c.597+4G>A XP_011523423.1:n.597+4G>A
XM_011525121.2:c.759+4G>A XP_011523423.2:n.759+4G>A
XM_011525122.1:c.601G>A XP_011523424.1:p.Gly201Ser
XM_011525122.2:c.763G>A XP_011523424.2:p.Gly255Ser
XM_011525123.1:c.584+536G>A XP_011523425.1:n.584+536G>A
XM_011525123.2:c.746+536G>A XP_011523425.2:n.746+536G>A
XM_011525124.1:c.295G>A XP_011523426.1:p.Gly99Ser
XM_011525124.2:c.295G>A XP_011523426.1:p.Gly99Ser
XM_024450873.1:c.295G>A XP_024306641.1:p.Gly99Ser
XR_002958056.1:n.1119G>A
XR_934517.1:n.667G>A