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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:
CA6582458
Gene: KRT5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
309557
ClinVar RCV Id:
RCV000284119
RCV000957064
RCV004021548
dbSNP Id:
rs140352947
ExAC:
12:52908944 C / T
gnomAD v2:
12-52908944-C-T
gnomAD v3:
12-52515160-C-T
gnomAD v4:
12-52515160-C-T
MyVariant Identifiers:
chr12:g.52908944C>T (hg19)
chr12:g.52515160C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.52515160C>T , CM000674.2:g.52515160C>T
GRCh38
NC_000012.11:g.52908944C>T , CM000674.1:g.52908944C>T
GRCh37
NC_000012.10:g.51195211C>T
NCBI36
NG_008297.1:g.10300G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000252242.9:c.1555G>A
MANE Select
ENSP00000252242.4:p.Gly519Ser
ENST00000252242.8:c.1555G>A
ENSP00000252242.4:p.Gly519Ser
ENST00000549511.5:n.762G>A
ENST00000552952.1:n.480G>A
NM_000424.3:c.1555G>A
NP_000415.2:p.Gly519Ser
NM_000424.4:c.1555G>A
MANE Select
NP_000415.2:p.Gly519Ser
Search 100 bp 5'
Search 100 bp 3'