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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:
CA384934712
Gene: KRT6C
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr12:g.52863483G>C (hg19)
chr12:g.52469699G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52469699G>C , CM000674.2:g.52469699G>C
GRCh38
NC_000012.11:g.52863483G>C , CM000674.1:g.52863483G>C
GRCh37
NC_000012.10:g.51149750G>C
NCBI36
NG_012416.1:g.9087C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000252250.7:c.1395C>G
MANE Select
ENSP00000252250.6:p.Tyr465Ter
ENST00000252250.6:c.1395C>G
ENSP00000252250.6:p.Tyr465Ter
NM_173086.4:c.1395C>G
NP_775109.2:p.Tyr465Ter
NM_173086.5:c.1395C>G
MANE Select
NP_775109.2:p.Tyr465Ter
Search 100 bp 5'
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