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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:
CA267172286
Gene: AMN
HGNC
NCBI
Linked Data
dbSNP Id:
rs59793431
gnomAD v3:
14-102922602-C-T
gnomAD v4:
14-102922602-C-T
MyVariant Identifiers:
chr14:g.103388939C>T (hg19)
chr14:g.102922602C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.102922602C>T , CM000676.2:g.102922602C>T
GRCh38
NC_000014.8:g.103388939C>T , CM000676.1:g.103388939C>T
GRCh37
NC_000014.7:g.102458692C>T
NCBI36
NG_008276.2:g.4947C>T , LRG_642:g.4947C>T
Transcript Alleles
HGVS
Amino-acid change
XM_011537202.1:c.-268C>T
XP_011535504.1:n.-268C>T
XM_011537202.3:c.-268C>T
XP_011535504.1:n.-268C>T
XM_024449714.1:c.10C>T
XP_024305482.1:p.Arg4Ter
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