Canonical Allele Identifier: CA2681939756
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117359-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117359C>A , CM000669.2:g.19117359C>A GRCh38
NC_000007.13:g.19156982C>A , CM000669.1:g.19156982C>A GRCh37
NC_000007.12:g.19123507C>A NCBI36
NG_008114.1:g.5314G>T
NG_008114.2:g.5314G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-38G>T MANE Select ENSP00000242261.5:n.-38G>T
ENST00000242261.5:c.-38G>T ENSP00000242261.5:n.-38G>T
NM_000474.3:c.-38G>T NP_000465.1:n.-38G>T
XM_011515496.1:c.-38G>T XP_011513798.1:n.-38G>T
NR_149001.1:n.314G>T
NM_000474.4:c.-38G>T MANE Select NP_000465.1:n.-38G>T
NR_149001.2:n.278G>T