Canonical Allele Identifier: CA626484630

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50169439_50169446dup , CM000679.2:g.50169439_50169446dup	GRCh38
NC_000017.10:g.48246800_48246807dup , CM000679.1:g.48246800_48246807dup	GRCh37
NC_000017.9:g.45601799_45601806dup	NCBI36
NG_008889.1:g.8435_8442dup , LRG_203:g.8435_8442dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000023.4:c.747+185_747+192dup MANE Select	NP_000014.1:n.747+185_747+192dup
ENST00000262018.8:c.747+185_747+192dup MANE Select	ENSP00000262018.3:n.747+185_747+192dup
NM_000023.2:c.747+185_747+192dup , LRG_203t1:c.747+185_747+192dup	NP_000014.1:n.747+185_747+192dup
NM_000023.3:c.747+185_747+192dup	NP_000014.1:n.747+185_747+192dup
NM_001135697.1:c.584+867_584+874dup	NP_001129169.1:n.584+867_584+874dup
NM_001135697.2:c.584+867_584+874dup	NP_001129169.1:n.584+867_584+874dup
NM_001135697.3:c.584+867_584+874dup	NP_001129169.1:n.584+867_584+874dup
NR_135553.1:n.803+185_803+192dup
NR_135553.2:n.783+185_783+192dup
ENST00000262018.7:c.747+185_747+192dup	ENSP00000262018.3:n.747+185_747+192dup
ENST00000344627.10:c.584+867_584+874dup	ENSP00000345522.6:n.584+867_584+874dup
ENST00000502555.5:c.*591_*598dup	ENSP00000422817.1:n.*591_*598dup
ENST00000504073.1:c.64+335_64+342dup
ENST00000504073.2:c.597+335_597+342dup	ENSP00000422030.2:n.597+335_597+342dup
ENST00000511303.5:c.305+867_305+874dup	ENSP00000426104.1:n.305+867_305+874dup
ENST00000511303.6:n.309+867_309+874dup
ENST00000512526.1:c.419+867_419+874dup
ENST00000512526.2:c.575+867_575+874dup	ENSP00000426606.2:n.575+867_575+874dup
ENST00000513821.5:c.747+185_747+192dup	ENSP00000426571.1:n.747+185_747+192dup
ENST00000513942.5:n.375+867_375+874dup
ENST00000682109.1:c.627+185_627+192dup	ENSP00000508041.1:n.627+185_627+192dup
ENST00000683226.1:n.642_649dup
ENST00000683294.1:c.747+185_747+192dup	ENSP00000508134.1:n.747+185_747+192dup
XM_011525120.1:c.747+185_747+192dup	XP_011523422.1:n.747+185_747+192dup
XM_011525120.2:c.909+185_909+192dup	XP_011523422.2:n.909+185_909+192dup
XM_011525121.1:c.597+335_597+342dup	XP_011523423.1:n.597+335_597+342dup
XM_011525121.2:c.759+335_759+342dup	XP_011523423.2:n.759+335_759+342dup
XM_011525122.1:c.747+185_747+192dup	XP_011523424.1:n.747+185_747+192dup
XM_011525122.2:c.909+185_909+192dup	XP_011523424.2:n.909+185_909+192dup
XM_011525123.1:c.584+867_584+874dup	XP_011523425.1:n.584+867_584+874dup
XM_011525123.2:c.746+867_746+874dup	XP_011523425.2:n.746+867_746+874dup
XM_011525124.1:c.441+185_441+192dup	XP_011523426.1:n.441+185_441+192dup
XM_011525124.2:c.441+185_441+192dup	XP_011523426.1:n.441+185_441+192dup
XM_024450873.1:c.441+185_441+192dup	XP_024306641.1:n.441+185_441+192dup
XR_002958056.1:n.1265+185_1265+192dup
XR_934517.1:n.813+185_813+192dup