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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA367015390
Gene: TWIST1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr7:g.19156484C>G (hg19)
chr7:g.19116861C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.19116861C>G , CM000669.2:g.19116861C>G
GRCh38
NC_000007.13:g.19156484C>G , CM000669.1:g.19156484C>G
GRCh37
NC_000007.12:g.19123009C>G
NCBI36
NG_008114.1:g.5812G>C
NG_008114.2:g.5812G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000242261.6:c.461G>C
MANE Select
ENSP00000242261.5:p.Arg154Thr
ENST00000242261.5:c.461G>C
ENSP00000242261.5:p.Arg154Thr
ENST00000354571.5:c.258G>C
ENST00000443687.5:c.64G>C
NM_000474.3:c.461G>C
NP_000465.1:p.Arg154Thr
XM_011515496.1:c.461G>C
XP_011513798.1:p.Arg154Thr
NR_149001.1:n.812G>C
NM_000474.4:c.461G>C
MANE Select
NP_000465.1:p.Arg154Thr
NR_149001.2:n.776G>C
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