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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:
CA405301719
Gene: HAMP
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr19:g.35775924T>A (hg19)
chr19:g.35285021T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35285021T>A , CM000681.2:g.35285021T>A
GRCh38
NC_000019.9:g.35775924T>A , CM000681.1:g.35775924T>A
GRCh37
NC_000019.8:g.40467764T>A
NCBI36
NG_011563.1:g.7515T>A
NG_011563.2:g.7515T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000222304.5:c.234T>A
MANE Select
ENSP00000222304.2:p.Cys78Ter
ENST00000222304.3:c.234T>A
ENSP00000222304.2:p.Cys78Ter
ENST00000593580.1:n.2505T>A
ENST00000598398.5:c.234T>A
ENSP00000471894.1:p.Cys78Ter
NM_021175.2:c.234T>A
NP_066998.1:p.Cys78Ter
NM_021175.3:c.234T>A
NP_066998.1:p.Cys78Ter
NM_021175.4:c.234T>A
MANE Select
NP_066998.1:p.Cys78Ter
Search 100 bp 5'
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