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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:
CA6604283
Gene: HOXC11
HGNC
NCBI
HOTAIR
HGNC
NCBI
Linked Data
dbSNP Id:
rs12427129
ExAC:
12:54367690 C / T
gnomAD v2:
12-54367690-C-T
gnomAD v3:
12-53973906-C-T
gnomAD v4:
12-53973906-C-T
MyVariant Identifiers:
chr12:g.54367690C>T (hg19)
chr12:g.53973906C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.53973906C>T , CM000674.2:g.53973906C>T
GRCh38
NC_000012.11:g.54367690C>T , CM000674.1:g.54367690C>T
GRCh37
NC_000012.10:g.52653957C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000243082.4:c.665C>T
(HOXC11)
ENSP00000243082.4:p.Ala222Val
ENST00000546378.1:c.665C>T
(HOXC11)
MANE Select
ENSP00000446680.1:p.Ala222Val
NM_014212.3:c.665C>T
(HOXC11)
NP_055027.1:p.Ala222Val
NR_047517.1:n.59+992G>A
(HOTAIR)
NM_014212.4:c.665C>T
(HOXC11)
MANE Select
NP_055027.1:p.Ala222Val
Search 100 bp 5'
Search 100 bp 3'