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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:
CA404906864
Gene: NCAN
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.19329831T>A (hg19)
chr19:g.19219022T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.19219022T>A , CM000681.2:g.19219022T>A
GRCh38
NC_000019.9:g.19329831T>A , CM000681.1:g.19329831T>A
GRCh37
NC_000019.8:g.19190831T>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000252575.11:c.181T>A
MANE Select
ENSP00000252575.4:p.Phe61Ile
ENST00000252575.10:c.181T>A
ENSP00000252575.4:p.Phe61Ile
NM_004386.2:c.181T>A
NP_004377.2:p.Phe61Ile
XM_005259747.1:c.181T>A
XP_005259804.1:p.Phe61Ile
NM_004386.3:c.181T>A
MANE Select
NP_004377.2:p.Phe61Ile
Search 100 bp 5'
Search 100 bp 3'