Canonical Allele Identifier: CA354649836
Gene: STAG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136521243T>C , CM000665.2:g.136521243T>C GRCh38
NC_000003.11:g.136240085T>C , CM000665.1:g.136240085T>C GRCh37
NC_000003.10:g.137722775T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_005862.3:c.646A>G MANE Select NP_005853.2:p.Arg216Gly
ENST00000383202.7:c.646A>G MANE Select ENSP00000372689.2:p.Arg216Gly
NM_005862.2:c.646A>G NP_005853.2:p.Arg216Gly
ENST00000236698.9:c.646A>G ENSP00000236698.5:p.Arg216Gly
ENST00000383202.6:c.646A>G ENSP00000372689.2:p.Arg216Gly
ENST00000434713.6:c.-33A>G ENSP00000404396.2:n.-33A>G
ENST00000462818.1:n.514A>G
ENST00000480733.1:c.646A>G ENSP00000420789.1:p.Arg216Gly
ENST00000483235.5:c.*570A>G ENSP00000419093.1:n.*570A>G
ENST00000487065.5:c.*285A>G ENSP00000418472.1:n.*285A>G
ENST00000629124.2:c.*285A>G ENSP00000486745.1:n.*285A>G
XM_011512329.1:c.235A>G XP_011510631.1:p.Arg79Gly
XM_011512329.2:c.235A>G XP_011510631.1:p.Arg79Gly
XM_011512330.1:c.235A>G XP_011510632.1:p.Arg79Gly
XM_011512331.1:c.235A>G XP_011510633.1:p.Arg79Gly
XM_011512331.2:c.235A>G XP_011510633.1:p.Arg79Gly
XM_011512333.1:c.235A>G XP_011510635.1:p.Arg79Gly
XM_017005523.1:c.235A>G XP_016861012.1:p.Arg79Gly
XM_017005524.2:c.-201A>G XP_016861013.1:n.-201A>G
XR_001739978.1:n.924A>G