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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:
CA288968
Gene: NHLRC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
129767
ClinVar RCV Id:
RCV002312189
dbSNP Id:
rs10949483
ExAC:
6:18122506 G / A
gnomAD v2:
6-18122506-G-A
gnomAD v3:
6-18122275-G-A
gnomAD v4:
6-18122275-G-A
MyVariant Identifiers:
chr6:g.18122506G>A (hg19)
chr6:g.18122275G>A (hg38)
PubMed:
PMID:16529633
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.18122275G>A , CM000668.2:g.18122275G>A
GRCh38
NC_000006.11:g.18122506G>A , CM000668.1:g.18122506G>A
GRCh37
NC_000006.10:g.18230485G>A
NCBI36
NG_016750.1:g.5346C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000340650.6:c.332C>T
MANE Select
ENSP00000345464.3:p.Pro111Leu
ENST00000340650.4:c.332C>T
ENSP00000345464.3:p.Pro111Leu
NM_198586.2:c.332C>T
NP_940988.2:p.Pro111Leu
NM_198586.3:c.332C>T
MANE Select
NP_940988.2:p.Pro111Leu
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