Canonical Allele Identifier: CA1692251626
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788599992
gnomAD v4: 7-19117416-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117416C>T , CM000669.2:g.19117416C>T GRCh38
NC_000007.13:g.19157039C>T , CM000669.1:g.19157039C>T GRCh37
NC_000007.12:g.19123564C>T NCBI36
NG_008114.1:g.5257G>A
NG_008114.2:g.5257G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-95G>A MANE Select ENSP00000242261.5:n.-95G>A
ENST00000242261.5:c.-95G>A ENSP00000242261.5:n.-95G>A
NM_000474.3:c.-95G>A NP_000465.1:n.-95G>A
XM_011515496.1:c.-95G>A XP_011513798.1:n.-95G>A
NR_149001.1:n.257G>A
NM_000474.4:c.-95G>A MANE Select NP_000465.1:n.-95G>A
NR_149001.2:n.221G>A
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