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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:
CA400801825
Gene: APOH
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr17:g.64210583T>A (hg19)
chr17:g.66214465T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.66214465T>A , CM000679.2:g.66214465T>A
GRCh38
NC_000017.10:g.64210583T>A , CM000679.1:g.64210583T>A
GRCh37
NC_000017.9:g.61641045T>A
NCBI36
NG_012045.1:g.19974A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000205948.11:c.970A>T
MANE Select
ENSP00000205948.6:p.Lys324Ter
ENST00000205948.10:c.970A>T
ENSP00000205948.6:p.Lys324Ter
ENST00000585162.1:c.258-2277A>T
NM_000042.2:c.970A>T
NP_000033.2:p.Lys324Ter
NM_000042.3:c.970A>T
MANE Select
NP_000033.2:p.Lys324Ter
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