Canonical Allele Identifier: CA2638703211

Gene: SGCA

Linked Data

• gnomAD v4: 17-50167317-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50167320dup , CM000679.2:g.50167320dup	GRCh38
NC_000017.10:g.48244681dup , CM000679.1:g.48244681dup	GRCh37
NC_000017.9:g.45599680dup	NCBI36
NG_008889.1:g.6316dup , LRG_203:g.6316dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504073.2:c.38-48dup	ENSP00000422030.2:n.38-48dup
ENST00000511303.6:n.38-627dup
ENST00000512526.2:c.38-48dup	ENSP00000426606.2:n.38-48dup
ENST00000682109.1:c.38-262dup	ENSP00000508041.1:n.38-262dup
ENST00000683294.1:c.38-48dup	ENSP00000508134.1:n.38-48dup
ENST00000262018.8:c.38-48dup MANE Select	ENSP00000262018.3:n.38-48dup
ENST00000262018.7:c.38-48dup	ENSP00000262018.3:n.38-48dup
ENST00000344627.10:c.38-48dup	ENSP00000345522.6:n.38-48dup
ENST00000502555.5:c.38-48dup	ENSP00000422817.1:n.38-48dup
ENST00000511303.5:c.34-627dup	ENSP00000426104.1:n.34-627dup
ENST00000513821.5:c.38-48dup	ENSP00000426571.1:n.38-48dup
ENST00000513942.5:n.104-627dup
ENST00000514934.1:c.97-48dup	ENSP00000423168.1:n.97-48dup
NM_000023.2:c.38-48dup , LRG_203t1:c.38-48dup	NP_000014.1:n.38-48dup
NM_001135697.1:c.38-48dup	NP_001129169.1:n.38-48dup
XM_011525120.1:c.38-48dup	XP_011523422.1:n.38-48dup
XM_011525121.1:c.38-48dup	XP_011523423.1:n.38-48dup
XM_011525122.1:c.38-48dup	XP_011523424.1:n.38-48dup
XM_011525123.1:c.38-48dup	XP_011523425.1:n.38-48dup
XM_011525124.1:c.-114-48dup	XP_011523426.1:n.-114-48dup
XR_934517.1:n.104-48dup
NM_000023.3:c.38-48dup	NP_000014.1:n.38-48dup
NM_001135697.2:c.38-48dup	NP_001129169.1:n.38-48dup
NR_135553.1:n.94-48dup
XM_011525120.2:c.200-48dup	XP_011523422.2:n.200-48dup
XM_011525121.2:c.200-48dup	XP_011523423.2:n.200-48dup
XM_011525122.2:c.200-48dup	XP_011523424.2:n.200-48dup
XM_011525123.2:c.200-48dup	XP_011523425.2:n.200-48dup
XM_011525124.2:c.-114-48dup	XP_011523426.1:n.-114-48dup
XM_024450873.1:c.-114-48dup	XP_024306641.1:n.-114-48dup
XR_002958056.1:n.556-48dup
NM_000023.4:c.38-48dup MANE Select	NP_000014.1:n.38-48dup
NM_001135697.3:c.38-48dup	NP_001129169.1:n.38-48dup
NR_135553.2:n.74-48dup