Canonical Allele Identifier: CA367016250
Gene: TWIST1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117270T>G , CM000669.2:g.19117270T>G GRCh38
NC_000007.13:g.19156893T>G , CM000669.1:g.19156893T>G GRCh37
NC_000007.12:g.19123418T>G NCBI36
NG_008114.1:g.5403A>C
NG_008114.2:g.5403A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.52A>C MANE Select ENSP00000242261.5:p.Ser18Arg
ENST00000242261.5:c.52A>C ENSP00000242261.5:p.Ser18Arg
NM_000474.3:c.52A>C NP_000465.1:p.Ser18Arg
XM_011515496.1:c.52A>C XP_011513798.1:p.Ser18Arg
NR_149001.1:n.403A>C
NM_000474.4:c.52A>C MANE Select NP_000465.1:p.Ser18Arg
NR_149001.2:n.367A>C