Canonical Allele Identifier: CA8643638

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50166033G>A , CM000679.2:g.50166033G>A	GRCh38
NC_000017.10:g.48243394G>A , CM000679.1:g.48243394G>A	GRCh37
NC_000017.9:g.45598393G>A	NCBI36
NG_008889.1:g.5029G>A , LRG_203:g.5029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683294.1:c.-8G>A	ENSP00000508134.1:n.-8G>A
ENST00000262018.8:c.-8G>A MANE Select	ENSP00000262018.3:n.-8G>A
ENST00000262018.7:c.-8G>A	ENSP00000262018.3:n.-8G>A
ENST00000344627.10:c.-8G>A	ENSP00000345522.6:n.-8G>A
ENST00000502555.5:c.-8G>A	ENSP00000422817.1:n.-8G>A
ENST00000513821.5:c.-8G>A	ENSP00000426571.1:n.-8G>A
ENST00000513942.5:n.103+1717G>A
ENST00000514934.1:c.-8G>A	ENSP00000423168.1:n.-8G>A
NM_000023.2:c.-8G>A , LRG_203t1:c.-8G>A	NP_000014.1:n.-8G>A
NM_001135697.1:c.-8G>A	NP_001129169.1:n.-8G>A
XM_011525120.1:c.-8G>A	XP_011523422.1:n.-8G>A
XM_011525121.1:c.-8G>A	XP_011523423.1:n.-8G>A
XM_011525122.1:c.-8G>A	XP_011523424.1:n.-8G>A
XM_011525123.1:c.-8G>A	XP_011523425.1:n.-8G>A
XM_011525124.1:c.-159G>A	XP_011523426.1:n.-159G>A
XR_934517.1:n.59G>A
XR_934832.1:n.71C>T
XR_934833.1:n.71C>T
XR_934834.1:n.71C>T
XR_934835.1:n.71C>T
NM_000023.3:c.-8G>A	NP_000014.1:n.-8G>A
NM_001135697.2:c.-8G>A	NP_001129169.1:n.-8G>A
NR_135553.1:n.49G>A
XM_011525120.2:c.155G>A	XP_011523422.2:p.Arg52Gln
XM_011525121.2:c.155G>A	XP_011523423.2:p.Arg52Gln
XM_011525122.2:c.155G>A	XP_011523424.2:p.Arg52Gln
XM_011525123.2:c.155G>A	XP_011523425.2:p.Arg52Gln
XM_011525124.2:c.-159G>A	XP_011523426.1:n.-159G>A
XM_024450873.1:c.-159G>A	XP_024306641.1:n.-159G>A
XR_001752932.1:n.690C>T
XR_002958056.1:n.511G>A
XR_934832.2:n.690C>T
XR_934833.2:n.690C>T
XR_934835.2:n.690C>T
NM_000023.4:c.-8G>A MANE Select	NP_000014.1:n.-8G>A
NM_001135697.3:c.-8G>A	NP_001129169.1:n.-8G>A
NR_135553.2:n.29G>A