Canonical Allele Identifier: CA354604929
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756951T>G , CM000665.2:g.133756951T>G GRCh38
NC_000003.11:g.133475795T>G , CM000665.1:g.133475795T>G GRCh37
NC_000003.10:g.134958485T>G NCBI36
NG_013080.1:g.15819T>G
NG_013080.2:g.99954T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.812T>G MANE Select ENSP00000385834.3:p.Val271Gly
ENST00000402696.7:c.812T>G ENSP00000385834.3:p.Val271Gly
ENST00000485977.1:c.177T>G ENSP00000418716.1:p.Arg59=
NM_001063.3:c.812T>G NP_001054.1:p.Val271Gly
XM_011513100.1:c.812T>G XP_011511402.1:p.Val271Gly
NM_001354703.1:c.680T>G NP_001341632.1:p.Val227Gly
NM_001354704.1:c.431T>G NP_001341633.1:p.Val144Gly
NM_001063.4:c.812T>G MANE Select NP_001054.2:p.Val271Gly
NM_001354703.2:c.680T>G NP_001341632.2:p.Val227Gly
NM_001354704.2:c.431T>G NP_001341633.2:p.Val144Gly