Canonical Allele Identifier: CA2681939814
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788599220
gnomAD v4: 7-19117396-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117396C>A , CM000669.2:g.19117396C>A GRCh38
NC_000007.13:g.19157019C>A , CM000669.1:g.19157019C>A GRCh37
NC_000007.12:g.19123544C>A NCBI36
NG_008114.1:g.5277G>T
NG_008114.2:g.5277G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-75G>T MANE Select ENSP00000242261.5:n.-75G>T
ENST00000242261.5:c.-75G>T ENSP00000242261.5:n.-75G>T
NM_000474.3:c.-75G>T NP_000465.1:n.-75G>T
XM_011515496.1:c.-75G>T XP_011513798.1:n.-75G>T
NR_149001.1:n.277G>T
NM_000474.4:c.-75G>T MANE Select NP_000465.1:n.-75G>T
NR_149001.2:n.241G>T
Search 100 bp 5'
Search 100 bp 3'