Canonical Allele Identifier: CA120429
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 9438
ClinVar RCV Id: RCV000010045
dbSNP Id: rs397514451

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168398A>G , CM000679.2:g.50168398A>G GRCh38
NC_000017.10:g.48245759A>G , CM000679.1:g.48245759A>G GRCh37
NC_000017.9:g.45600758A>G NCBI36
NG_008889.1:g.7394A>G , LRG_203:g.7394A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504073.2:c.410A>G ENSP00000422030.2:p.Glu137Gly
ENST00000511303.6:n.135A>G
ENST00000512526.2:c.401A>G ENSP00000426606.2:n.401A>G
ENST00000682109.1:c.290A>G ENSP00000508041.1:p.Glu97Gly
ENST00000683226.1:n.120A>G
ENST00000683294.1:c.410A>G ENSP00000508134.1:p.Glu137Gly
ENST00000262018.8:c.410A>G MANE Select ENSP00000262018.3:p.Glu137Gly
ENST00000262018.7:c.410A>G ENSP00000262018.3:p.Glu137Gly
ENST00000344627.10:c.410A>G ENSP00000345522.6:p.Glu137Gly
ENST00000502555.5:c.*69A>G ENSP00000422817.1:n.*69A>G
ENST00000511303.5:c.131A>G ENSP00000426104.1:p.Glu44Gly
ENST00000512526.1:c.245A>G
ENST00000513821.5:c.410A>G ENSP00000426571.1:p.Glu137Gly
ENST00000513942.5:n.201A>G
ENST00000514934.1:c.*116A>G ENSP00000423168.1:n.*116A>G
NM_000023.2:c.410A>G , LRG_203t1:c.410A>G NP_000014.1:p.Glu137Gly
NM_001135697.1:c.410A>G NP_001129169.1:p.Glu137Gly
XM_011525120.1:c.410A>G XP_011523422.1:p.Glu137Gly
XM_011525121.1:c.410A>G XP_011523423.1:p.Glu137Gly
XM_011525122.1:c.410A>G XP_011523424.1:p.Glu137Gly
XM_011525123.1:c.410A>G XP_011523425.1:p.Glu137Gly
XM_011525124.1:c.104A>G XP_011523426.1:p.Glu35Gly
XR_934517.1:n.476A>G
NM_000023.3:c.410A>G NP_000014.1:p.Glu137Gly
NM_001135697.2:c.410A>G NP_001129169.1:p.Glu137Gly
NR_135553.1:n.466A>G
XM_011525120.2:c.572A>G XP_011523422.2:p.Glu191Gly
XM_011525121.2:c.572A>G XP_011523423.2:p.Glu191Gly
XM_011525122.2:c.572A>G XP_011523424.2:p.Glu191Gly
XM_011525123.2:c.572A>G XP_011523425.2:p.Glu191Gly
XM_011525124.2:c.104A>G XP_011523426.1:p.Glu35Gly
XM_024450873.1:c.104A>G XP_024306641.1:p.Glu35Gly
XR_002958056.1:n.928A>G
NM_000023.4:c.410A>G MANE Select NP_000014.1:p.Glu137Gly
NM_001135697.3:c.410A>G NP_001129169.1:p.Glu137Gly
NR_135553.2:n.446A>G