Canonical Allele Identifier: CA387506650
Community Standard Title: NM_000231.3(SGCG):c.269T>C (p.Leu90Ser)
Gene: SGCG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23234684T>C , CM000675.2:g.23234684T>C GRCh38
NC_000013.10:g.23808823T>C , CM000675.1:g.23808823T>C GRCh37
NC_000013.9:g.22706823T>C NCBI36
NG_008759.1:g.58764T>C , LRG_207:g.58764T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000231.3:c.269T>C MANE Select NP_000222.2:p.Leu90Ser
ENST00000218867.4:c.269T>C MANE Select ENSP00000218867.3:p.Leu90Ser
NM_000231.2:c.269T>C , LRG_207t1:c.269T>C NP_000222.1:p.Leu90Ser
NM_001378244.1:c.323T>C NP_001365173.1:p.Leu108Ser
NM_001378245.1:c.269T>C NP_001365174.1:p.Leu90Ser
NM_001378246.1:c.269T>C NP_001365175.1:p.Leu90Ser
ENST00000218867.3:c.269T>C ENSP00000218867.3:p.Leu90Ser
XM_005266505.2:c.269T>C XP_005266562.1:p.Leu90Ser
XM_006719861.2:c.323T>C XP_006719924.1:p.Leu108Ser
XM_006719861.3:c.323T>C XP_006719924.1:p.Leu108Ser
XM_024449397.1:c.269T>C XP_024305165.1:p.Leu90Ser