Canonical Allele Identifier: CA354611194
Gene: TF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133777119T>C , CM000665.2:g.133777119T>C GRCh38
NC_000003.11:g.133495963T>C , CM000665.1:g.133495963T>C GRCh37
NC_000003.10:g.134978653T>C NCBI36
NG_013080.1:g.35987T>C
NG_013080.2:g.120122T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000402696.9:c.1943T>C MANE Select ENSP00000385834.3:p.Leu648Pro
ENST00000402696.7:c.1943T>C ENSP00000385834.3:p.Leu648Pro
ENST00000461695.1:c.674T>C
ENST00000467842.1:n.2937T>C
NM_001063.3:c.1943T>C NP_001054.1:p.Leu648Pro
XM_011513100.1:c.1943T>C XP_011511402.1:p.Leu648Pro
NM_001354703.1:c.1811T>C NP_001341632.1:p.Leu604Pro
NM_001354704.1:c.1562T>C NP_001341633.1:p.Leu521Pro
NM_001063.4:c.1943T>C MANE Select NP_001054.2:p.Leu648Pro
NM_001354703.2:c.1811T>C NP_001341632.2:p.Leu604Pro
NM_001354704.2:c.1562T>C NP_001341633.2:p.Leu521Pro