Canonical Allele Identifier: CA2681939793
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117383-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117383A>C , CM000669.2:g.19117383A>C GRCh38
NC_000007.13:g.19157006A>C , CM000669.1:g.19157006A>C GRCh37
NC_000007.12:g.19123531A>C NCBI36
NG_008114.1:g.5290T>G
NG_008114.2:g.5290T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-62T>G MANE Select ENSP00000242261.5:n.-62T>G
ENST00000242261.5:c.-62T>G ENSP00000242261.5:n.-62T>G
NM_000474.3:c.-62T>G NP_000465.1:n.-62T>G
XM_011515496.1:c.-62T>G XP_011513798.1:n.-62T>G
NR_149001.1:n.290T>G
NM_000474.4:c.-62T>G MANE Select NP_000465.1:n.-62T>G
NR_149001.2:n.254T>G