Canonical Allele Identifier: CA199069
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 188811
ClinVar RCV Id: RCV000169146
dbSNP Id: rs757888349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50167644C>T , CM000679.2:g.50167644C>T GRCh38
NC_000017.10:g.48245005C>T , CM000679.1:g.48245005C>T GRCh37
NC_000017.9:g.45600004C>T NCBI36
NG_008889.1:g.6640C>T , LRG_203:g.6640C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.220C>T ENSP00000422030.2:p.Arg74Trp
ENST00000511303.6:n.38-303C>T
ENST00000512526.2:c.220C>T ENSP00000426606.2:p.Arg74Trp
ENST00000682109.1:c.100C>T ENSP00000508041.1:p.Arg34Trp
ENST00000683294.1:c.220C>T ENSP00000508134.1:p.Arg74Trp
ENST00000262018.8:c.220C>T MANE Select ENSP00000262018.3:p.Arg74Trp
ENST00000262018.7:c.220C>T ENSP00000262018.3:p.Arg74Trp
ENST00000344627.10:c.220C>T ENSP00000345522.6:p.Arg74Trp
ENST00000502555.5:c.157+157C>T ENSP00000422817.1:n.157+157C>T
ENST00000511303.5:c.34-303C>T ENSP00000426104.1:n.34-303C>T
ENST00000512526.1:c.64C>T
ENST00000513821.5:c.220C>T ENSP00000426571.1:p.Arg74Trp
ENST00000513942.5:n.104-303C>T
ENST00000514934.1:c.*18+157C>T ENSP00000423168.1:n.*18+157C>T
NM_000023.2:c.220C>T , LRG_203t1:c.220C>T NP_000014.1:p.Arg74Trp
NM_001135697.1:c.220C>T NP_001129169.1:p.Arg74Trp
XM_011525120.1:c.220C>T XP_011523422.1:p.Arg74Trp
XM_011525121.1:c.220C>T XP_011523423.1:p.Arg74Trp
XM_011525122.1:c.220C>T XP_011523424.1:p.Arg74Trp
XM_011525123.1:c.220C>T XP_011523425.1:p.Arg74Trp
XM_011525124.1:c.6+157C>T XP_011523426.1:n.6+157C>T
XR_934517.1:n.286C>T
NM_000023.3:c.220C>T NP_000014.1:p.Arg74Trp
NM_001135697.2:c.220C>T NP_001129169.1:p.Arg74Trp
NR_135553.1:n.276C>T
XM_011525120.2:c.382C>T XP_011523422.2:p.Arg128Trp
XM_011525121.2:c.382C>T XP_011523423.2:p.Arg128Trp
XM_011525122.2:c.382C>T XP_011523424.2:p.Arg128Trp
XM_011525123.2:c.382C>T XP_011523425.2:p.Arg128Trp
XM_011525124.2:c.6+157C>T XP_011523426.1:n.6+157C>T
XM_024450873.1:c.6+157C>T XP_024306641.1:n.6+157C>T
XR_002958056.1:n.738C>T
NM_000023.4:c.220C>T MANE Select NP_000014.1:p.Arg74Trp
NM_001135697.3:c.220C>T NP_001129169.1:p.Arg74Trp
NR_135553.2:n.256C>T