Canonical Allele Identifier: CA400210641
Community Standard Title: NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
Gene: SGCA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50166060G>A , CM000679.2:g.50166060G>A GRCh38
NC_000017.10:g.48243421G>A , CM000679.1:g.48243421G>A GRCh37
NC_000017.9:g.45598420G>A NCBI36
NG_008889.1:g.5056G>A , LRG_203:g.5056G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000023.4:c.20G>A MANE Select NP_000014.1:p.Trp7Ter
ENST00000262018.8:c.20G>A MANE Select ENSP00000262018.3:p.Trp7Ter
NM_000023.2:c.20G>A , LRG_203t1:c.20G>A NP_000014.1:p.Trp7Ter
NM_000023.3:c.20G>A NP_000014.1:p.Trp7Ter
NM_001135697.1:c.20G>A NP_001129169.1:p.Trp7Ter
NM_001135697.2:c.20G>A NP_001129169.1:p.Trp7Ter
NM_001135697.3:c.20G>A NP_001129169.1:p.Trp7Ter
NR_135553.1:n.76G>A
NR_135553.2:n.56G>A
ENST00000262018.7:c.20G>A ENSP00000262018.3:p.Trp7Ter
ENST00000344627.10:c.20G>A ENSP00000345522.6:p.Trp7Ter
ENST00000502555.5:c.20G>A ENSP00000422817.1:p.Trp7Ter
ENST00000504073.2:c.20G>A ENSP00000422030.2:p.Trp7Ter
ENST00000511303.5:c.16G>A ENSP00000426104.1:p.Gly6Arg
ENST00000511303.6:n.20G>A
ENST00000512526.2:c.20G>A ENSP00000426606.2:p.Trp7Ter
ENST00000513821.5:c.20G>A ENSP00000426571.1:p.Trp7Ter
ENST00000513942.5:n.103+1744G>A
ENST00000514934.1:c.20G>A ENSP00000423168.1:p.Trp7Ter
ENST00000682109.1:c.20G>A ENSP00000508041.1:p.Trp7Ter
ENST00000683294.1:c.20G>A ENSP00000508134.1:p.Trp7Ter
XM_011525120.1:c.20G>A XP_011523422.1:p.Trp7Ter
XM_011525120.2:c.182G>A XP_011523422.2:p.Trp61Ter
XM_011525121.1:c.20G>A XP_011523423.1:p.Trp7Ter
XM_011525121.2:c.182G>A XP_011523423.2:p.Trp61Ter
XM_011525122.1:c.20G>A XP_011523424.1:p.Trp7Ter
XM_011525122.2:c.182G>A XP_011523424.2:p.Trp61Ter
XM_011525123.1:c.20G>A XP_011523425.1:p.Trp7Ter
XM_011525123.2:c.182G>A XP_011523425.2:p.Trp61Ter
XM_011525124.1:c.-132G>A XP_011523426.1:n.-132G>A
XM_011525124.2:c.-132G>A XP_011523426.1:n.-132G>A
XM_024450873.1:c.-132G>A XP_024306641.1:n.-132G>A
XR_001752932.1:n.663C>T
XR_002958056.1:n.538G>A
XR_934517.1:n.86G>A
XR_934832.1:n.44C>T
XR_934832.2:n.663C>T
XR_934833.1:n.44C>T
XR_934833.2:n.663C>T
XR_934834.1:n.44C>T
XR_934835.1:n.44C>T
XR_934835.2:n.663C>T