Canonical Allele Identifier: CA2681939849
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117420-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117420G>T , CM000669.2:g.19117420G>T GRCh38
NC_000007.13:g.19157043G>T , CM000669.1:g.19157043G>T GRCh37
NC_000007.12:g.19123568G>T NCBI36
NG_008114.1:g.5253C>A
NG_008114.2:g.5253C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-99C>A MANE Select ENSP00000242261.5:n.-99C>A
ENST00000242261.5:c.-99C>A ENSP00000242261.5:n.-99C>A
NM_000474.3:c.-99C>A NP_000465.1:n.-99C>A
NR_149001.1:n.253C>A
NM_000474.4:c.-99C>A MANE Select NP_000465.1:n.-99C>A
NR_149001.2:n.217C>A
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