Canonical Allele Identifier: CA354604927
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133756950G>C , CM000665.2:g.133756950G>C GRCh38
NC_000003.11:g.133475794G>C , CM000665.1:g.133475794G>C GRCh37
NC_000003.10:g.134958484G>C NCBI36
NG_013080.1:g.15818G>C
NG_013080.2:g.99953G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.811G>C MANE Select ENSP00000385834.3:p.Val271Leu
ENST00000402696.7:c.811G>C ENSP00000385834.3:p.Val271Leu
ENST00000485977.1:c.176G>C ENSP00000418716.1:p.Arg59Pro
NM_001063.3:c.811G>C NP_001054.1:p.Val271Leu
XM_011513100.1:c.811G>C XP_011511402.1:p.Val271Leu
NM_001354703.1:c.679G>C NP_001341632.1:p.Val227Leu
NM_001354704.1:c.430G>C NP_001341633.1:p.Val144Leu
NM_001063.4:c.811G>C MANE Select NP_001054.2:p.Val271Leu
NM_001354703.2:c.679G>C NP_001341632.2:p.Val227Leu
NM_001354704.2:c.430G>C NP_001341633.2:p.Val144Leu