Canonical Allele Identifier: CA2838393688

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167657dup , CM000679.2:g.50167657dup	GRCh38
NC_000017.10:g.48245018dup , CM000679.1:g.48245018dup	GRCh37
NC_000017.9:g.45600017dup	NCBI36
NG_008889.1:g.6653dup , LRG_203:g.6653dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.233dup	ENSP00000422030.2:p.Tyr78Ter
ENST00000511303.6:n.38-290dup
ENST00000512526.2:c.233dup	ENSP00000426606.2:p.Tyr78Ter
ENST00000682109.1:c.113dup	ENSP00000508041.1:p.Tyr38Ter
ENST00000683294.1:c.233dup	ENSP00000508134.1:p.Tyr78Ter
ENST00000262018.8:c.233dup MANE Select	ENSP00000262018.3:p.Tyr78Ter
ENST00000262018.7:c.233dup	ENSP00000262018.3:p.Tyr78Ter
ENST00000344627.10:c.233dup	ENSP00000345522.6:p.Tyr78Ter
ENST00000502555.5:c.157+170dup	ENSP00000422817.1:n.157+170dup
ENST00000511303.5:c.34-290dup	ENSP00000426104.1:n.34-290dup
ENST00000512526.1:c.77dup
ENST00000513821.5:c.233dup	ENSP00000426571.1:p.Tyr78Ter
ENST00000513942.5:n.104-290dup
ENST00000514934.1:c.*18+170dup	ENSP00000423168.1:n.*18+170dup
NM_000023.2:c.233dup , LRG_203t1:c.233dup	NP_000014.1:p.Tyr78Ter
NM_001135697.1:c.233dup	NP_001129169.1:p.Tyr78Ter
XM_011525120.1:c.233dup	XP_011523422.1:p.Tyr78Ter
XM_011525121.1:c.233dup	XP_011523423.1:p.Tyr78Ter
XM_011525122.1:c.233dup	XP_011523424.1:p.Tyr78Ter
XM_011525123.1:c.233dup	XP_011523425.1:p.Tyr78Ter
XM_011525124.1:c.6+170dup	XP_011523426.1:n.6+170dup
XR_934517.1:n.299dup
NM_000023.3:c.233dup	NP_000014.1:p.Tyr78Ter
NM_001135697.2:c.233dup	NP_001129169.1:p.Tyr78Ter
NR_135553.1:n.289dup
XM_011525120.2:c.395dup	XP_011523422.2:p.Tyr132Ter
XM_011525121.2:c.395dup	XP_011523423.2:p.Tyr132Ter
XM_011525122.2:c.395dup	XP_011523424.2:p.Tyr132Ter
XM_011525123.2:c.395dup	XP_011523425.2:p.Tyr132Ter
XM_011525124.2:c.6+170dup	XP_011523426.1:n.6+170dup
XM_024450873.1:c.6+170dup	XP_024306641.1:n.6+170dup
XR_002958056.1:n.751dup
NM_000023.4:c.233dup MANE Select	NP_000014.1:p.Tyr78Ter
NM_001135697.3:c.233dup	NP_001129169.1:p.Tyr78Ter
NR_135553.2:n.269dup