Canonical Allele Identifier: CA387502649
Community Standard Title: NM_000231.3(SGCG):c.128T>A (p.Leu43Ter)
Gene: SGCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23203822T>A , CM000675.2:g.23203822T>A GRCh38
NC_000013.10:g.23777961T>A , CM000675.1:g.23777961T>A GRCh37
NC_000013.9:g.22675961T>A NCBI36
NG_008759.1:g.27902T>A , LRG_207:g.27902T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000231.3:c.128T>A MANE Select NP_000222.2:p.Leu43Ter
ENST00000218867.4:c.128T>A MANE Select ENSP00000218867.3:p.Leu43Ter
NM_000231.2:c.128T>A , LRG_207t1:c.128T>A NP_000222.1:p.Leu43Ter
NM_001378244.1:c.182T>A NP_001365173.1:p.Leu61Ter
NM_001378245.1:c.128T>A NP_001365174.1:p.Leu43Ter
NM_001378246.1:c.128T>A NP_001365175.1:p.Leu43Ter
ENST00000218867.3:c.128T>A ENSP00000218867.3:p.Leu43Ter
XM_005266505.2:c.128T>A XP_005266562.1:p.Leu43Ter
XM_006719861.2:c.182T>A XP_006719924.1:p.Leu61Ter
XM_006719861.3:c.182T>A XP_006719924.1:p.Leu61Ter
XM_024449397.1:c.128T>A XP_024305165.1:p.Leu43Ter