Canonical Allele Identifier: CA8643817
Gene: SGCA HGNC NCBI

Linked Data

ClinVar Variation Id: 281027
dbSNP Id: rs143962150

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50168506T>C , CM000679.2:g.50168506T>C GRCh38
NC_000017.10:g.48245867T>C , CM000679.1:g.48245867T>C GRCh37
NC_000017.9:g.45600866T>C NCBI36
NG_008889.1:g.7502T>C , LRG_203:g.7502T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.518T>C ENSP00000422030.2:p.Leu173Pro
ENST00000511303.6:n.243T>C
ENST00000512526.2:c.509T>C ENSP00000426606.2:n.509T>C
ENST00000682109.1:c.398T>C ENSP00000508041.1:p.Leu133Pro
ENST00000683226.1:n.228T>C
ENST00000683294.1:c.518T>C ENSP00000508134.1:p.Leu173Pro
ENST00000262018.8:c.518T>C MANE Select ENSP00000262018.3:p.Leu173Pro
ENST00000262018.7:c.518T>C ENSP00000262018.3:p.Leu173Pro
ENST00000344627.10:c.518T>C ENSP00000345522.6:p.Leu173Pro
ENST00000502555.5:c.*177T>C ENSP00000422817.1:n.*177T>C
ENST00000511303.5:c.239T>C ENSP00000426104.1:p.Leu80Pro
ENST00000512526.1:c.353T>C
ENST00000513821.5:c.518T>C ENSP00000426571.1:p.Leu173Pro
ENST00000513942.5:n.309T>C
ENST00000514934.1:c.*224T>C ENSP00000423168.1:n.*224T>C
NM_000023.2:c.518T>C , LRG_203t1:c.518T>C NP_000014.1:p.Leu173Pro
NM_001135697.1:c.518T>C NP_001129169.1:p.Leu173Pro
XM_011525120.1:c.518T>C XP_011523422.1:p.Leu173Pro
XM_011525121.1:c.518T>C XP_011523423.1:p.Leu173Pro
XM_011525122.1:c.518T>C XP_011523424.1:p.Leu173Pro
XM_011525123.1:c.518T>C XP_011523425.1:p.Leu173Pro
XM_011525124.1:c.212T>C XP_011523426.1:p.Leu71Pro
XR_934517.1:n.584T>C
NM_000023.3:c.518T>C NP_000014.1:p.Leu173Pro
NM_001135697.2:c.518T>C NP_001129169.1:p.Leu173Pro
NR_135553.1:n.574T>C
XM_011525120.2:c.680T>C XP_011523422.2:p.Leu227Pro
XM_011525121.2:c.680T>C XP_011523423.2:p.Leu227Pro
XM_011525122.2:c.680T>C XP_011523424.2:p.Leu227Pro
XM_011525123.2:c.680T>C XP_011523425.2:p.Leu227Pro
XM_011525124.2:c.212T>C XP_011523426.1:p.Leu71Pro
XM_024450873.1:c.212T>C XP_024306641.1:p.Leu71Pro
XR_002958056.1:n.1036T>C
NM_000023.4:c.518T>C MANE Select NP_000014.1:p.Leu173Pro
NM_001135697.3:c.518T>C NP_001129169.1:p.Leu173Pro
NR_135553.2:n.554T>C