Canonical Allele Identifier: CA1692251620
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1054159293
gnomAD v4: 7-19117412-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117412C>T , CM000669.2:g.19117412C>T GRCh38
NC_000007.13:g.19157035C>T , CM000669.1:g.19157035C>T GRCh37
NC_000007.12:g.19123560C>T NCBI36
NG_008114.1:g.5261G>A
NG_008114.2:g.5261G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-91G>A MANE Select ENSP00000242261.5:n.-91G>A
ENST00000242261.5:c.-91G>A ENSP00000242261.5:n.-91G>A
NM_000474.3:c.-91G>A NP_000465.1:n.-91G>A
XM_011515496.1:c.-91G>A XP_011513798.1:n.-91G>A
NR_149001.1:n.261G>A
NM_000474.4:c.-91G>A MANE Select NP_000465.1:n.-91G>A
NR_149001.2:n.225G>A
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