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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:
CA405300763
Gene: HAMP
HGNC
NCBI
Linked Data
gnomAD v4:
19-35284828-G-A
MyVariant Identifiers:
chr19:g.35775731G>A (hg19)
chr19:g.35284828G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000019.10:g.35284828G>A , CM000681.2:g.35284828G>A
GRCh38
NC_000019.9:g.35775731G>A , CM000681.1:g.35775731G>A
GRCh37
NC_000019.8:g.40467571G>A
NCBI36
NG_011563.1:g.7322G>A
NG_011563.2:g.7322G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000222304.5:c.130G>A
MANE Select
ENSP00000222304.2:p.Gly44Arg
ENST00000222304.3:c.130G>A
ENSP00000222304.2:p.Gly44Arg
ENST00000593580.1:n.2312G>A
ENST00000598398.5:c.130G>A
ENSP00000471894.1:p.Gly44Arg
NM_021175.2:c.130G>A
NP_066998.1:p.Gly44Arg
NM_021175.3:c.130G>A
NP_066998.1:p.Gly44Arg
NM_021175.4:c.130G>A
MANE Select
NP_066998.1:p.Gly44Arg
Search 100 bp 5'
Search 100 bp 3'