Canonical Allele Identifier: CA1692251552
Gene: TWIST1 HGNC NCBI

Linked Data

dbSNP Id: rs1788598611
gnomAD v4: 7-19117383-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117383A>G , CM000669.2:g.19117383A>G GRCh38
NC_000007.13:g.19157006A>G , CM000669.1:g.19157006A>G GRCh37
NC_000007.12:g.19123531A>G NCBI36
NG_008114.1:g.5290T>C
NG_008114.2:g.5290T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-62T>C MANE Select ENSP00000242261.5:n.-62T>C
ENST00000242261.5:c.-62T>C ENSP00000242261.5:n.-62T>C
NM_000474.3:c.-62T>C NP_000465.1:n.-62T>C
XM_011515496.1:c.-62T>C XP_011513798.1:n.-62T>C
NR_149001.1:n.290T>C
NM_000474.4:c.-62T>C MANE Select NP_000465.1:n.-62T>C
NR_149001.2:n.254T>C
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