Canonical Allele Identifier: CA16041852

Gene: SGCA

Linked Data

• ClinVar Variation Id: 370656
• ClinVar RCV Id: RCV000411377
• dbSNP Id: rs1057516664
• gnomAD v3: 17-50168568-G-T
• gnomAD v4: 17-50168568-G-T
• MyVariant Identifiers: chr17:g.48245929G>T (hg19) ; chr17:g.50168568G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168568G>T , CM000679.2:g.50168568G>T	GRCh38
NC_000017.10:g.48245929G>T , CM000679.1:g.48245929G>T	GRCh37
NC_000017.9:g.45600928G>T	NCBI36
NG_008889.1:g.7564G>T , LRG_203:g.7564G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.580G>T	ENSP00000422030.2:p.Glu194Ter
ENST00000511303.6:n.305G>T
ENST00000512526.2:c.571G>T	ENSP00000426606.2:n.571G>T
ENST00000682109.1:c.460G>T	ENSP00000508041.1:p.Glu154Ter
ENST00000683226.1:n.290G>T
ENST00000683294.1:c.580G>T	ENSP00000508134.1:p.Glu194Ter
ENST00000262018.8:c.580G>T MANE Select	ENSP00000262018.3:p.Glu194Ter
ENST00000262018.7:c.580G>T	ENSP00000262018.3:p.Glu194Ter
ENST00000344627.10:c.580G>T	ENSP00000345522.6:p.Glu194Ter
ENST00000502555.5:c.*239G>T	ENSP00000422817.1:n.*239G>T
ENST00000504073.1:c.47G>T
ENST00000511303.5:c.301G>T	ENSP00000426104.1:p.Glu101Ter
ENST00000512526.1:c.415G>T
ENST00000513821.5:c.580G>T	ENSP00000426571.1:p.Glu194Ter
ENST00000513942.5:n.371G>T
ENST00000514934.1:c.*286G>T	ENSP00000423168.1:n.*286G>T
NM_000023.2:c.580G>T , LRG_203t1:c.580G>T	NP_000014.1:p.Glu194Ter
NM_001135697.1:c.580G>T	NP_001129169.1:p.Glu194Ter
XM_011525120.1:c.580G>T	XP_011523422.1:p.Glu194Ter
XM_011525121.1:c.580G>T	XP_011523423.1:p.Glu194Ter
XM_011525122.1:c.580G>T	XP_011523424.1:p.Glu194Ter
XM_011525123.1:c.580G>T	XP_011523425.1:p.Glu194Ter
XM_011525124.1:c.274G>T	XP_011523426.1:p.Glu92Ter
XR_934517.1:n.646G>T
NM_000023.3:c.580G>T	NP_000014.1:p.Glu194Ter
NM_001135697.2:c.580G>T	NP_001129169.1:p.Glu194Ter
NR_135553.1:n.636G>T
XM_011525120.2:c.742G>T	XP_011523422.2:p.Glu248Ter
XM_011525121.2:c.742G>T	XP_011523423.2:p.Glu248Ter
XM_011525122.2:c.742G>T	XP_011523424.2:p.Glu248Ter
XM_011525123.2:c.742G>T	XP_011523425.2:p.Glu248Ter
XM_011525124.2:c.274G>T	XP_011523426.1:p.Glu92Ter
XM_024450873.1:c.274G>T	XP_024306641.1:p.Glu92Ter
XR_002958056.1:n.1098G>T
NM_000023.4:c.580G>T MANE Select	NP_000014.1:p.Glu194Ter
NM_001135697.3:c.580G>T	NP_001129169.1:p.Glu194Ter
NR_135553.2:n.616G>T