Canonical Allele Identifier: CA387506440
Community Standard Title: NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
Gene: SGCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23234631T>A , CM000675.2:g.23234631T>A GRCh38
NC_000013.10:g.23808770T>A , CM000675.1:g.23808770T>A GRCh37
NC_000013.9:g.22706770T>A NCBI36
NG_008759.1:g.58711T>A , LRG_207:g.58711T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000231.3:c.216T>A MANE Select NP_000222.2:p.Cys72Ter
ENST00000218867.4:c.216T>A MANE Select ENSP00000218867.3:p.Cys72Ter
NM_000231.2:c.216T>A , LRG_207t1:c.216T>A NP_000222.1:p.Cys72Ter
NM_001378244.1:c.270T>A NP_001365173.1:p.Cys90Ter
NM_001378245.1:c.216T>A NP_001365174.1:p.Cys72Ter
NM_001378246.1:c.216T>A NP_001365175.1:p.Cys72Ter
ENST00000218867.3:c.216T>A ENSP00000218867.3:p.Cys72Ter
XM_005266505.2:c.216T>A XP_005266562.1:p.Cys72Ter
XM_006719861.2:c.270T>A XP_006719924.1:p.Cys90Ter
XM_006719861.3:c.270T>A XP_006719924.1:p.Cys90Ter
XM_024449397.1:c.216T>A XP_024305165.1:p.Cys72Ter