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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:
CA914321712
Gene: HAMP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3021521
ClinVar RCV Id:
RCV003875144
dbSNP Id:
rs1568466083
gnomAD v2:
19-35775834-C-T
gnomAD v4:
19-35284931-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35284931C>T , CM000681.2:g.35284931C>T
GRCh38
NC_000019.9:g.35775834C>T , CM000681.1:g.35775834C>T
GRCh37
NC_000019.8:g.40467674C>T
NCBI36
NG_011563.1:g.7425C>T
NG_011563.2:g.7425C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000222304.5:c.151-7C>T
MANE Select
ENSP00000222304.2:n.151-7C>T
ENST00000222304.3:c.151-7C>T
ENSP00000222304.2:n.151-7C>T
ENST00000593580.1:n.2415C>T
ENST00000598398.5:c.151-7C>T
ENSP00000471894.1:n.151-7C>T
NM_021175.2:c.151-7C>T
NP_066998.1:n.151-7C>T
NM_021175.3:c.151-7C>T
NP_066998.1:n.151-7C>T
NM_021175.4:c.151-7C>T
MANE Select
NP_066998.1:n.151-7C>T
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