Canonical Allele Identifier: CA291536537

Gene: SGCA

Linked Data

• ClinVar Variation Id: 2052923
• ClinVar RCV Id: RCV002937815 ; RCV003375718
• dbSNP Id: rs767691968
• gnomAD v2: 17-48245899-C-T
• gnomAD v3: 17-50168538-C-T
• gnomAD v4: 17-50168538-C-T
• COSMIC: COSM5771007 ; COSM5771008
• MyVariant Identifiers: chr17:g.48245899C>T (hg19) ; chr17:g.50168538C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168538C>T , CM000679.2:g.50168538C>T	GRCh38
NC_000017.10:g.48245899C>T , CM000679.1:g.48245899C>T	GRCh37
NC_000017.9:g.45600898C>T	NCBI36
NG_008889.1:g.7534C>T , LRG_203:g.7534C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.550C>T	ENSP00000422030.2:p.Arg184Cys
ENST00000511303.6:n.275C>T
ENST00000512526.2:c.541C>T	ENSP00000426606.2:n.541C>T
ENST00000682109.1:c.430C>T	ENSP00000508041.1:p.Arg144Cys
ENST00000683226.1:n.260C>T
ENST00000683294.1:c.550C>T	ENSP00000508134.1:p.Arg184Cys
ENST00000262018.8:c.550C>T MANE Select	ENSP00000262018.3:p.Arg184Cys
ENST00000262018.7:c.550C>T	ENSP00000262018.3:p.Arg184Cys
ENST00000344627.10:c.550C>T	ENSP00000345522.6:p.Arg184Cys
ENST00000502555.5:c.*209C>T	ENSP00000422817.1:n.*209C>T
ENST00000504073.1:c.17C>T
ENST00000511303.5:c.271C>T	ENSP00000426104.1:p.Arg91Cys
ENST00000512526.1:c.385C>T
ENST00000513821.5:c.550C>T	ENSP00000426571.1:p.Arg184Cys
ENST00000513942.5:n.341C>T
ENST00000514934.1:c.*256C>T	ENSP00000423168.1:n.*256C>T
NM_000023.2:c.550C>T , LRG_203t1:c.550C>T	NP_000014.1:p.Arg184Cys
NM_001135697.1:c.550C>T	NP_001129169.1:p.Arg184Cys
XM_011525120.1:c.550C>T	XP_011523422.1:p.Arg184Cys
XM_011525121.1:c.550C>T	XP_011523423.1:p.Arg184Cys
XM_011525122.1:c.550C>T	XP_011523424.1:p.Arg184Cys
XM_011525123.1:c.550C>T	XP_011523425.1:p.Arg184Cys
XM_011525124.1:c.244C>T	XP_011523426.1:p.Arg82Cys
XR_934517.1:n.616C>T
NM_000023.3:c.550C>T	NP_000014.1:p.Arg184Cys
NM_001135697.2:c.550C>T	NP_001129169.1:p.Arg184Cys
NR_135553.1:n.606C>T
XM_011525120.2:c.712C>T	XP_011523422.2:p.Arg238Cys
XM_011525121.2:c.712C>T	XP_011523423.2:p.Arg238Cys
XM_011525122.2:c.712C>T	XP_011523424.2:p.Arg238Cys
XM_011525123.2:c.712C>T	XP_011523425.2:p.Arg238Cys
XM_011525124.2:c.244C>T	XP_011523426.1:p.Arg82Cys
XM_024450873.1:c.244C>T	XP_024306641.1:p.Arg82Cys
XR_002958056.1:n.1068C>T
NM_000023.4:c.550C>T MANE Select	NP_000014.1:p.Arg184Cys
NM_001135697.3:c.550C>T	NP_001129169.1:p.Arg184Cys
NR_135553.2:n.586C>T