Canonical Allele Identifier: CA400179800

Gene: SGCA

Linked Data

• ClinVar Variation Id: 1068550
• ClinVar RCV Id: RCV001380152
• dbSNP Id: rs780264754
• gnomAD v4: 17-50168390-C-A
• MyVariant Identifiers: chr17:g.48245751C>A (hg19) ; chr17:g.50168390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50168390C>A , CM000679.2:g.50168390C>A	GRCh38
NC_000017.10:g.48245751C>A , CM000679.1:g.48245751C>A	GRCh37
NC_000017.9:g.45600750C>A	NCBI36
NG_008889.1:g.7386C>A , LRG_203:g.7386C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.402C>A	ENSP00000422030.2:p.Tyr134Ter
ENST00000511303.6:n.127C>A
ENST00000512526.2:c.393C>A	ENSP00000426606.2:n.393C>A
ENST00000682109.1:c.282C>A	ENSP00000508041.1:p.Tyr94Ter
ENST00000683226.1:n.112C>A
ENST00000683294.1:c.402C>A	ENSP00000508134.1:p.Tyr134Ter
ENST00000262018.8:c.402C>A MANE Select	ENSP00000262018.3:p.Tyr134Ter
ENST00000262018.7:c.402C>A	ENSP00000262018.3:p.Tyr134Ter
ENST00000344627.10:c.402C>A	ENSP00000345522.6:p.Tyr134Ter
ENST00000502555.5:c.*61C>A	ENSP00000422817.1:n.*61C>A
ENST00000511303.5:c.123C>A	ENSP00000426104.1:p.Tyr41Ter
ENST00000512526.1:c.237C>A
ENST00000513821.5:c.402C>A	ENSP00000426571.1:p.Tyr134Ter
ENST00000513942.5:n.193C>A
ENST00000514934.1:c.*108C>A	ENSP00000423168.1:n.*108C>A
NM_000023.2:c.402C>A , LRG_203t1:c.402C>A	NP_000014.1:p.Tyr134Ter
NM_001135697.1:c.402C>A	NP_001129169.1:p.Tyr134Ter
XM_011525120.1:c.402C>A	XP_011523422.1:p.Tyr134Ter
XM_011525121.1:c.402C>A	XP_011523423.1:p.Tyr134Ter
XM_011525122.1:c.402C>A	XP_011523424.1:p.Tyr134Ter
XM_011525123.1:c.402C>A	XP_011523425.1:p.Tyr134Ter
XM_011525124.1:c.96C>A	XP_011523426.1:p.Tyr32Ter
XR_934517.1:n.468C>A
NM_000023.3:c.402C>A	NP_000014.1:p.Tyr134Ter
NM_001135697.2:c.402C>A	NP_001129169.1:p.Tyr134Ter
NR_135553.1:n.458C>A
XM_011525120.2:c.564C>A	XP_011523422.2:p.Tyr188Ter
XM_011525121.2:c.564C>A	XP_011523423.2:p.Tyr188Ter
XM_011525122.2:c.564C>A	XP_011523424.2:p.Tyr188Ter
XM_011525123.2:c.564C>A	XP_011523425.2:p.Tyr188Ter
XM_011525124.2:c.96C>A	XP_011523426.1:p.Tyr32Ter
XM_024450873.1:c.96C>A	XP_024306641.1:p.Tyr32Ter
XR_002958056.1:n.920C>A
NM_000023.4:c.402C>A MANE Select	NP_000014.1:p.Tyr134Ter
NM_001135697.3:c.402C>A	NP_001129169.1:p.Tyr134Ter
NR_135553.2:n.438C>A