Canonical Allele Identifier: CA16604371
Gene: STAG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 393236
dbSNP Id: rs1057524850

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136472468C>G , CM000665.2:g.136472468C>G GRCh38
NC_000003.11:g.136191310C>G , CM000665.1:g.136191310C>G GRCh37
NC_000003.10:g.137674000C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000383202.7:c.1150G>C MANE Select ENSP00000372689.2:p.Asp384His
ENST00000236698.9:c.1150G>C ENSP00000236698.5:p.Asp384His
ENST00000383202.6:c.1150G>C ENSP00000372689.2:p.Asp384His
ENST00000434713.6:c.472G>C ENSP00000404396.2:p.Asp158His
ENST00000483235.5:c.*1242G>C ENSP00000419093.1:n.*1242G>C
ENST00000487065.5:c.*789G>C ENSP00000418472.1:n.*789G>C
ENST00000492318.1:c.90G>C
ENST00000629124.2:c.*789G>C ENSP00000486745.1:n.*789G>C
NM_005862.2:c.1150G>C NP_005853.2:p.Asp384His
XM_011512329.1:c.739G>C XP_011510631.1:p.Asp247His
XM_011512330.1:c.739G>C XP_011510632.1:p.Asp247His
XM_011512331.1:c.739G>C XP_011510633.1:p.Asp247His
XM_011512332.1:c.472G>C XP_011510634.1:p.Asp158His
XM_011512333.1:c.739G>C XP_011510635.1:p.Asp247His
XM_011512329.2:c.739G>C XP_011510631.1:p.Asp247His
XM_011512331.2:c.739G>C XP_011510633.1:p.Asp247His
XM_017005523.1:c.739G>C XP_016861012.1:p.Asp247His
XM_017005524.2:c.472G>C XP_016861013.1:p.Asp158His
XR_001739978.1:n.1428G>C
NM_005862.3:c.1150G>C MANE Select NP_005853.2:p.Asp384His