Canonical Allele Identifier: CA2576316863
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50170068G>A , CM000679.2:g.50170068G>A GRCh38
NC_000017.10:g.48247429G>A , CM000679.1:g.48247429G>A GRCh37
NC_000017.9:g.45602428G>A NCBI36
NG_008889.1:g.9064G>A , LRG_203:g.9064G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000504073.2:c.598-75G>A ENSP00000422030.2:n.598-75G>A
ENST00000511303.6:n.310-572G>A
ENST00000512526.2:c.576-572G>A ENSP00000426606.2:n.576-572G>A
ENST00000682109.1:c.628-75G>A ENSP00000508041.1:n.628-75G>A
ENST00000683226.1:n.1271G>A
ENST00000683294.1:c.752G>A ENSP00000508134.1:p.Trp251Ter
ENST00000683544.1:n.39G>A
ENST00000262018.8:c.748-75G>A MANE Select ENSP00000262018.3:n.748-75G>A
ENST00000262018.7:c.748-75G>A ENSP00000262018.3:n.748-75G>A
ENST00000344627.10:c.585-572G>A ENSP00000345522.6:n.585-572G>A
ENST00000504073.1:c.65-75G>A
ENST00000511303.5:c.306-572G>A ENSP00000426104.1:n.306-572G>A
ENST00000512526.1:c.420-572G>A
ENST00000513821.5:c.748-572G>A ENSP00000426571.1:n.748-572G>A
ENST00000513942.5:n.376-572G>A
NM_000023.2:c.748-75G>A , LRG_203t1:c.748-75G>A NP_000014.1:n.748-75G>A
NM_001135697.1:c.585-572G>A NP_001129169.1:n.585-572G>A
XM_011525120.1:c.748-75G>A XP_011523422.1:n.748-75G>A
XM_011525121.1:c.598-75G>A XP_011523423.1:n.598-75G>A
XM_011525122.1:c.748-572G>A XP_011523424.1:n.748-572G>A
XM_011525123.1:c.585-572G>A XP_011523425.1:n.585-572G>A
XM_011525124.1:c.442-75G>A XP_011523426.1:n.442-75G>A
XR_934517.1:n.814-572G>A
NM_000023.3:c.748-75G>A NP_000014.1:n.748-75G>A
NM_001135697.2:c.585-572G>A NP_001129169.1:n.585-572G>A
NR_135553.1:n.804-572G>A
XM_011525120.2:c.910-75G>A XP_011523422.2:n.910-75G>A
XM_011525121.2:c.760-75G>A XP_011523423.2:n.760-75G>A
XM_011525122.2:c.910-572G>A XP_011523424.2:n.910-572G>A
XM_011525123.2:c.747-572G>A XP_011523425.2:n.747-572G>A
XM_011525124.2:c.442-75G>A XP_011523426.1:n.442-75G>A
XM_024450873.1:c.442-75G>A XP_024306641.1:n.442-75G>A
XR_002958056.1:n.1270G>A
NM_000023.4:c.748-75G>A MANE Select NP_000014.1:n.748-75G>A
NM_001135697.3:c.585-572G>A NP_001129169.1:n.585-572G>A
NR_135553.2:n.784-572G>A