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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:
CA361027532
Gene: PITX1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.134364638G>C (hg19)
chr5:g.135028948G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.135028948G>C , CM000667.2:g.135028948G>C
GRCh38
NC_000005.9:g.134364638G>C , CM000667.1:g.134364638G>C
GRCh37
NC_000005.8:g.134392537G>C
NCBI36
NG_012114.1:g.10327C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000265340.12:c.776C>G
MANE Select
ENSP00000265340.6:p.Pro259Arg
ENST00000265340.11:c.776C>G
ENSP00000265340.6:p.Pro259Arg
ENST00000506438.5:c.776C>G
ENSP00000427542.1:p.Pro259Arg
NM_002653.4:c.776C>G
NP_002644.4:p.Pro259Arg
NM_002653.5:c.776C>G
MANE Select
NP_002644.4:p.Pro259Arg
Search 100 bp 5'
Search 100 bp 3'