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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:
CA391078933
Gene: AMN
HGNC
NCBI
Linked Data
dbSNP Id:
rs1891082878
gnomAD v4:
14-102922705-G-A
MyVariant Identifiers:
chr14:g.103389042G>A (hg19)
chr14:g.102922705G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000014.9:g.102922705G>A , CM000676.2:g.102922705G>A
GRCh38
NC_000014.8:g.103389042G>A , CM000676.1:g.103389042G>A
GRCh37
NC_000014.7:g.102458795G>A
NCBI36
NG_008276.2:g.5050G>A , LRG_642:g.5050G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000299155.10:c.17G>A
MANE Select
ENSP00000299155.6:p.Arg6Gln
ENST00000299155.9:c.17G>A
ENSP00000299155.5:p.Arg6Gln
NM_030943.3:c.17G>A , LRG_642t1:c.17G>A
NP_112205.2:p.Arg6Gln
XM_011537202.1:c.-165G>A
XP_011535504.1:n.-165G>A
XM_011537202.3:c.-165G>A
XP_011535504.1:n.-165G>A
XM_024449714.1:c.113G>A
XP_024305482.1:p.Arg38Gln
NM_030943.4:c.17G>A
MANE Select
NP_112205.2:p.Arg6Gln
Search 100 bp 5'
Search 100 bp 3'