Canonical Allele Identifier: CA2557478835
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117426-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117426C>T , CM000669.2:g.19117426C>T GRCh38
NC_000007.13:g.19157049C>T , CM000669.1:g.19157049C>T GRCh37
NC_000007.12:g.19123574C>T NCBI36
NG_008114.1:g.5247G>A
NG_008114.2:g.5247G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-105G>A MANE Select ENSP00000242261.5:n.-105G>A
ENST00000242261.5:c.-105G>A ENSP00000242261.5:n.-105G>A
NM_000474.3:c.-105G>A NP_000465.1:n.-105G>A
NR_149001.1:n.247G>A
NM_000474.4:c.-105G>A MANE Select NP_000465.1:n.-105G>A
NR_149001.2:n.211G>A