Canonical Allele Identifier: CA400179996

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1393065
• ClinVar RCV Id: RCV001896541
• dbSNP Id: rs1598267318
• MyVariant Identifiers: chr17:g.48245847G>C (hg19) ; chr17:g.50168486G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168486G>C , CM000679.2:g.50168486G>C	GRCh38
NC_000017.10:g.48245847G>C , CM000679.1:g.48245847G>C	GRCh37
NC_000017.9:g.45600846G>C	NCBI36
NG_008889.1:g.7482G>C , LRG_203:g.7482G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.498G>C	ENSP00000422030.2:p.Glu166Asp
ENST00000511303.6:n.223G>C
ENST00000512526.2:c.489G>C	ENSP00000426606.2:n.489G>C
ENST00000682109.1:c.378G>C	ENSP00000508041.1:p.Glu126Asp
ENST00000683226.1:n.208G>C
ENST00000683294.1:c.498G>C	ENSP00000508134.1:p.Glu166Asp
ENST00000262018.8:c.498G>C MANE Select	ENSP00000262018.3:p.Glu166Asp
ENST00000262018.7:c.498G>C	ENSP00000262018.3:p.Glu166Asp
ENST00000344627.10:c.498G>C	ENSP00000345522.6:p.Glu166Asp
ENST00000502555.5:c.*157G>C	ENSP00000422817.1:n.*157G>C
ENST00000511303.5:c.219G>C	ENSP00000426104.1:p.Glu73Asp
ENST00000512526.1:c.333G>C
ENST00000513821.5:c.498G>C	ENSP00000426571.1:p.Glu166Asp
ENST00000513942.5:n.289G>C
ENST00000514934.1:c.*204G>C	ENSP00000423168.1:n.*204G>C
NM_000023.2:c.498G>C , LRG_203t1:c.498G>C	NP_000014.1:p.Glu166Asp
NM_001135697.1:c.498G>C	NP_001129169.1:p.Glu166Asp
XM_011525120.1:c.498G>C	XP_011523422.1:p.Glu166Asp
XM_011525121.1:c.498G>C	XP_011523423.1:p.Glu166Asp
XM_011525122.1:c.498G>C	XP_011523424.1:p.Glu166Asp
XM_011525123.1:c.498G>C	XP_011523425.1:p.Glu166Asp
XM_011525124.1:c.192G>C	XP_011523426.1:p.Glu64Asp
XR_934517.1:n.564G>C
NM_000023.3:c.498G>C	NP_000014.1:p.Glu166Asp
NM_001135697.2:c.498G>C	NP_001129169.1:p.Glu166Asp
NR_135553.1:n.554G>C
XM_011525120.2:c.660G>C	XP_011523422.2:p.Glu220Asp
XM_011525121.2:c.660G>C	XP_011523423.2:p.Glu220Asp
XM_011525122.2:c.660G>C	XP_011523424.2:p.Glu220Asp
XM_011525123.2:c.660G>C	XP_011523425.2:p.Glu220Asp
XM_011525124.2:c.192G>C	XP_011523426.1:p.Glu64Asp
XM_024450873.1:c.192G>C	XP_024306641.1:p.Glu64Asp
XR_002958056.1:n.1016G>C
NM_000023.4:c.498G>C MANE Select	NP_000014.1:p.Glu166Asp
NM_001135697.3:c.498G>C	NP_001129169.1:p.Glu166Asp
NR_135553.2:n.534G>C