Canonical Allele Identifier: CA387506557
Community Standard Title: NM_000231.3(SGCG):c.247G>T (p.Glu83Ter)
Gene: SGCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23234662G>T , CM000675.2:g.23234662G>T GRCh38
NC_000013.10:g.23808801G>T , CM000675.1:g.23808801G>T GRCh37
NC_000013.9:g.22706801G>T NCBI36
NG_008759.1:g.58742G>T , LRG_207:g.58742G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000231.3:c.247G>T MANE Select NP_000222.2:p.Glu83Ter
ENST00000218867.4:c.247G>T MANE Select ENSP00000218867.3:p.Glu83Ter
NM_000231.2:c.247G>T , LRG_207t1:c.247G>T NP_000222.1:p.Glu83Ter
NM_001378244.1:c.301G>T NP_001365173.1:p.Glu101Ter
NM_001378245.1:c.247G>T NP_001365174.1:p.Glu83Ter
NM_001378246.1:c.247G>T NP_001365175.1:p.Glu83Ter
ENST00000218867.3:c.247G>T ENSP00000218867.3:p.Glu83Ter
XM_005266505.2:c.247G>T XP_005266562.1:p.Glu83Ter
XM_006719861.2:c.301G>T XP_006719924.1:p.Glu101Ter
XM_006719861.3:c.301G>T XP_006719924.1:p.Glu101Ter
XM_024449397.1:c.247G>T XP_024305165.1:p.Glu83Ter