Canonical Allele Identifier: CA400177902
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167716C>G , CM000679.2:g.50167716C>G GRCh38
NC_000017.10:g.48245077C>G , CM000679.1:g.48245077C>G GRCh37
NC_000017.9:g.45600076C>G NCBI36
NG_008889.1:g.6712C>G , LRG_203:g.6712C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.292C>G ENSP00000422030.2:p.Arg98Gly
ENST00000511303.6:n.38-231C>G
ENST00000512526.2:c.292C>G ENSP00000426606.2:p.Arg98Gly
ENST00000682109.1:c.172C>G ENSP00000508041.1:p.Arg58Gly
ENST00000683226.1:n.2C>G
ENST00000683294.1:c.292C>G ENSP00000508134.1:p.Arg98Gly
ENST00000262018.8:c.292C>G MANE Select ENSP00000262018.3:p.Arg98Gly
ENST00000262018.7:c.292C>G ENSP00000262018.3:p.Arg98Gly
ENST00000344627.10:c.292C>G ENSP00000345522.6:p.Arg98Gly
ENST00000502555.5:c.157+229C>G ENSP00000422817.1:n.157+229C>G
ENST00000511303.5:c.34-231C>G ENSP00000426104.1:n.34-231C>G
ENST00000512526.1:c.136C>G
ENST00000513821.5:c.292C>G ENSP00000426571.1:p.Arg98Gly
ENST00000513942.5:n.104-231C>G
ENST00000514934.1:c.*18+229C>G ENSP00000423168.1:n.*18+229C>G
NM_000023.2:c.292C>G , LRG_203t1:c.292C>G NP_000014.1:p.Arg98Gly
NM_001135697.1:c.292C>G NP_001129169.1:p.Arg98Gly
XM_011525120.1:c.292C>G XP_011523422.1:p.Arg98Gly
XM_011525121.1:c.292C>G XP_011523423.1:p.Arg98Gly
XM_011525122.1:c.292C>G XP_011523424.1:p.Arg98Gly
XM_011525123.1:c.292C>G XP_011523425.1:p.Arg98Gly
XM_011525124.1:c.6+229C>G XP_011523426.1:n.6+229C>G
XR_934517.1:n.358C>G
NM_000023.3:c.292C>G NP_000014.1:p.Arg98Gly
NM_001135697.2:c.292C>G NP_001129169.1:p.Arg98Gly
NR_135553.1:n.348C>G
XM_011525120.2:c.454C>G XP_011523422.2:p.Arg152Gly
XM_011525121.2:c.454C>G XP_011523423.2:p.Arg152Gly
XM_011525122.2:c.454C>G XP_011523424.2:p.Arg152Gly
XM_011525123.2:c.454C>G XP_011523425.2:p.Arg152Gly
XM_011525124.2:c.6+229C>G XP_011523426.1:n.6+229C>G
XM_024450873.1:c.6+229C>G XP_024306641.1:n.6+229C>G
XR_002958056.1:n.810C>G
NM_000023.4:c.292C>G MANE Select NP_000014.1:p.Arg98Gly
NM_001135697.3:c.292C>G NP_001129169.1:p.Arg98Gly
NR_135553.2:n.328C>G