Canonical Allele Identifier: CA2681939853
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117424-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117424T>G , CM000669.2:g.19117424T>G GRCh38
NC_000007.13:g.19157047T>G , CM000669.1:g.19157047T>G GRCh37
NC_000007.12:g.19123572T>G NCBI36
NG_008114.1:g.5249A>C
NG_008114.2:g.5249A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-103A>C MANE Select ENSP00000242261.5:n.-103A>C
ENST00000242261.5:c.-103A>C ENSP00000242261.5:n.-103A>C
NM_000474.3:c.-103A>C NP_000465.1:n.-103A>C
NR_149001.1:n.249A>C
NM_000474.4:c.-103A>C MANE Select NP_000465.1:n.-103A>C
NR_149001.2:n.213A>C