Canonical Allele Identifier: CA1099032990
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788596596
gnomAD v3: 7-19117328-A-T
gnomAD v4: 7-19117328-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117328A>T , CM000669.2:g.19117328A>T GRCh38
NC_000007.13:g.19156951A>T , CM000669.1:g.19156951A>T GRCh37
NC_000007.12:g.19123476A>T NCBI36
NG_008114.1:g.5345T>A
NG_008114.2:g.5345T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-7T>A MANE Select ENSP00000242261.5:n.-7T>A
ENST00000242261.5:c.-7T>A ENSP00000242261.5:n.-7T>A
NM_000474.3:c.-7T>A NP_000465.1:n.-7T>A
XM_011515496.1:c.-7T>A XP_011513798.1:n.-7T>A
NR_149001.1:n.345T>A
NM_000474.4:c.-7T>A MANE Select NP_000465.1:n.-7T>A
NR_149001.2:n.309T>A
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