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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:
CA217366
Gene: KRT6B
HGNC
NCBI
Linked Data
ClinVar Variation Id:
66599
ClinVar RCV Id:
RCV000057022
RCV002483085
dbSNP Id:
rs267607473
COSMIC:
COSM5935890
MyVariant Identifiers:
chr12:g.52841605C>T (hg19)
chr12:g.52447821C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52447821C>T , CM000674.2:g.52447821C>T
GRCh38
NC_000012.11:g.52841605C>T , CM000674.1:g.52841605C>T
GRCh37
NC_000012.10:g.51127872C>T
NCBI36
NG_008299.1:g.9306G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000252252.4:c.1381G>A
MANE Select
ENSP00000252252.3:p.Glu461Lys
ENST00000252252.3:c.1381G>A
ENSP00000252252.3:p.Glu461Lys
NM_005555.3:c.1381G>A
NP_005546.2:p.Glu461Lys
NM_005555.4:c.1381G>A
MANE Select
NP_005546.2:p.Glu461Lys
Search 100 bp 5'
Search 100 bp 3'