Canonical Allele Identifier: CA2580094127

Gene: SGCA

Linked Data

• ClinVar Variation Id: 2445910
• ClinVar RCV Id: RCV003155829

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167415dup , CM000679.2:g.50167415dup	GRCh38
NC_000017.10:g.48244776dup , CM000679.1:g.48244776dup	GRCh37
NC_000017.9:g.45599775dup	NCBI36
NG_008889.1:g.6411dup , LRG_203:g.6411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.85dup	ENSP00000422030.2:p.His29ProfsTer15
ENST00000511303.6:n.38-532dup
ENST00000512526.2:c.85dup	ENSP00000426606.2:p.His29ProfsTer15
ENST00000682109.1:c.38-167dup	ENSP00000508041.1:n.38-167dup
ENST00000683294.1:c.85dup	ENSP00000508134.1:p.His29ProfsTer15
ENST00000262018.8:c.85dup MANE Select	ENSP00000262018.3:p.His29ProfsTer15
ENST00000262018.7:c.85dup	ENSP00000262018.3:p.His29ProfsTer15
ENST00000344627.10:c.85dup	ENSP00000345522.6:p.His29ProfsTer15
ENST00000502555.5:c.85dup	ENSP00000422817.1:p.His29ProfsTer15
ENST00000511303.5:c.34-532dup	ENSP00000426104.1:n.34-532dup
ENST00000513821.5:c.85dup	ENSP00000426571.1:p.His29ProfsTer15
ENST00000513942.5:n.104-532dup
ENST00000514934.1:c.144dup	ENSP00000423168.1:p.Thr49HisfsTer?
NM_000023.2:c.85dup , LRG_203t1:c.85dup	NP_000014.1:p.His29ProfsTer15
NM_001135697.1:c.85dup	NP_001129169.1:p.His29ProfsTer15
XM_011525120.1:c.85dup	XP_011523422.1:p.His29ProfsTer15
XM_011525121.1:c.85dup	XP_011523423.1:p.His29ProfsTer15
XM_011525122.1:c.85dup	XP_011523424.1:p.His29ProfsTer15
XM_011525123.1:c.85dup	XP_011523425.1:p.His29ProfsTer15
XM_011525124.1:c.-67dup	XP_011523426.1:n.-67dup
XR_934517.1:n.151dup
NM_000023.3:c.85dup	NP_000014.1:p.His29ProfsTer15
NM_001135697.2:c.85dup	NP_001129169.1:p.His29ProfsTer15
NR_135553.1:n.141dup
XM_011525120.2:c.247dup	XP_011523422.2:p.His83ProfsTer15
XM_011525121.2:c.247dup	XP_011523423.2:p.His83ProfsTer15
XM_011525122.2:c.247dup	XP_011523424.2:p.His83ProfsTer15
XM_011525123.2:c.247dup	XP_011523425.2:p.His83ProfsTer15
XM_011525124.2:c.-67dup	XP_011523426.1:n.-67dup
XM_024450873.1:c.-67dup	XP_024306641.1:n.-67dup
XR_002958056.1:n.603dup
NM_000023.4:c.85dup MANE Select	NP_000014.1:p.His29ProfsTer15
NM_001135697.3:c.85dup	NP_001129169.1:p.His29ProfsTer15
NR_135553.2:n.121dup