Canonical Allele Identifier: CA14405647

Gene: SGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50165951C>A , CM000679.2:g.50165951C>A	GRCh38
NC_000017.10:g.48243312C>A , CM000679.1:g.48243312C>A	GRCh37
NC_000017.9:g.45598311C>A	NCBI36
NG_008889.1:g.4947C>A , LRG_203:g.4947C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513942.5:n.103+1635C>A
XM_011525120.2:c.73C>A	XP_011523422.2:p.Pro25Thr
XM_011525121.2:c.73C>A	XP_011523423.2:p.Pro25Thr
XM_011525122.2:c.73C>A	XP_011523424.2:p.Pro25Thr
XM_011525123.2:c.73C>A	XP_011523425.2:p.Pro25Thr
XR_001752932.1:n.705+67G>T
XR_002958056.1:n.429C>A
XR_934832.1:n.86+67G>T
XR_934832.2:n.705+67G>T
XR_934833.1:n.86+67G>T
XR_934833.2:n.705+67G>T
XR_934834.1:n.86+67G>T
XR_934835.1:n.86+67G>T
XR_934835.2:n.705+67G>T