Canonical Allele Identifier: CA384928734
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502324
ClinVar RCV Id: RCV002045143
dbSNP Id: rs267607661
MyVariant Identifiers: chr12:g.52913533A>C (hg19) chr12:g.52519749A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519749A>C , CM000674.2:g.52519749A>C GRCh38
NC_000012.11:g.52913533A>C , CM000674.1:g.52913533A>C GRCh37
NC_000012.10:g.51199800A>C NCBI36
NG_008297.1:g.5711T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.548T>G MANE Select ENSP00000252242.4:p.Ile183Ser
ENST00000252242.8:c.548T>G ENSP00000252242.4:p.Ile183Ser
ENST00000549420.1:c.218T>G ENSP00000447209.1:p.Ile73Ser
ENST00000552629.5:n.646T>G
NM_000424.3:c.548T>G NP_000415.2:p.Ile183Ser
NM_000424.4:c.548T>G MANE Select NP_000415.2:p.Ile183Ser
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Search 100 bp 3'