Canonical Allele Identifier: CA2681939824
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117406-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117406C>A , CM000669.2:g.19117406C>A GRCh38
NC_000007.13:g.19157029C>A , CM000669.1:g.19157029C>A GRCh37
NC_000007.12:g.19123554C>A NCBI36
NG_008114.1:g.5267G>T
NG_008114.2:g.5267G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-85G>T MANE Select ENSP00000242261.5:n.-85G>T
ENST00000242261.5:c.-85G>T ENSP00000242261.5:n.-85G>T
NM_000474.3:c.-85G>T NP_000465.1:n.-85G>T
XM_011515496.1:c.-85G>T XP_011513798.1:n.-85G>T
NR_149001.1:n.267G>T
NM_000474.4:c.-85G>T MANE Select NP_000465.1:n.-85G>T
NR_149001.2:n.231G>T