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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:
CA451904726
Gene: FAM162B
HGNC
NCBI
Linked Data
dbSNP Id:
rs654128
MyVariant Identifiers:
chr6:g.117086378C>T (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.116765215C>T , CM000668.2:g.116765215C>T
GRCh38
NC_000006.11:g.117086378C>T , CM000668.1:g.117086378C>T
GRCh37
NC_000006.10:g.117193071C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000368557.6:c.213G>A
MANE Select
ENSP00000357545.4:p.Gln71=
ENST00000368557.5:c.213G>A
ENSP00000357545.4:p.Gln71=
NM_001085480.2:c.213G>A
NP_001078949.1:p.Gln71=
NM_001085480.3:c.213G>A
MANE Select
NP_001078949.1:p.Gln71=
Search 100 bp 5'
Search 100 bp 3'