Canonical Allele Identifier: CA367016247
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v4: 7-19117269-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117269C>A , CM000669.2:g.19117269C>A GRCh38
NC_000007.13:g.19156892C>A , CM000669.1:g.19156892C>A GRCh37
NC_000007.12:g.19123417C>A NCBI36
NG_008114.1:g.5404G>T
NG_008114.2:g.5404G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.53G>T MANE Select ENSP00000242261.5:p.Ser18Ile
ENST00000242261.5:c.53G>T ENSP00000242261.5:p.Ser18Ile
NM_000474.3:c.53G>T NP_000465.1:p.Ser18Ile
XM_011515496.1:c.53G>T XP_011513798.1:p.Ser18Ile
NR_149001.1:n.404G>T
NM_000474.4:c.53G>T MANE Select NP_000465.1:p.Ser18Ile
NR_149001.2:n.368G>T