Canonical Allele Identifier: CA2681939318
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19116688-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19116688C>A , CM000669.2:g.19116688C>A GRCh38
NC_000007.13:g.19156311C>A , CM000669.1:g.19156311C>A GRCh37
NC_000007.12:g.19122836C>A NCBI36
NG_008114.1:g.5985G>T
NG_008114.2:g.5985G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000242261.6:c.*25G>T MANE Select ENSP00000242261.5:n.*25G>T
ENST00000242261.5:c.*25G>T ENSP00000242261.5:n.*25G>T
ENST00000354571.5:c.431G>T
ENST00000443687.5:c.237G>T
NM_000474.3:c.*25G>T NP_000465.1:n.*25G>T
XM_011515496.1:c.*25G>T XP_011513798.1:n.*25G>T
NR_149001.1:n.985G>T
NM_000474.4:c.*25G>T MANE Select NP_000465.1:n.*25G>T
NR_149001.2:n.949G>T
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