Canonical Allele Identifier: CA1099033011
Gene: TWIST1 HGNC NCBI

Linked Data

gnomAD v3: 7-19117376-G-C
gnomAD v4: 7-19117376-G-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.19117376G>C , CM000669.2:g.19117376G>C GRCh38
NC_000007.13:g.19156999G>C , CM000669.1:g.19156999G>C GRCh37
NC_000007.12:g.19123524G>C NCBI36
NG_008114.1:g.5297C>G
NG_008114.2:g.5297C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242261.6:c.-55C>G MANE Select ENSP00000242261.5:n.-55C>G
ENST00000242261.5:c.-55C>G ENSP00000242261.5:n.-55C>G
NM_000474.3:c.-55C>G NP_000465.1:n.-55C>G
XM_011515496.1:c.-55C>G XP_011513798.1:n.-55C>G
NR_149001.1:n.297C>G
NM_000474.4:c.-55C>G MANE Select NP_000465.1:n.-55C>G
NR_149001.2:n.261C>G
Search 100 bp 5'
Search 100 bp 3'