Canonical Allele Identifier: CA216756
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 66262
ClinVar RCV Id: RCV000056619
dbSNP Id: rs267607661
gnomAD v4: 12-52519749-A-G
MyVariant Identifiers: chr12:g.52913533A>G (hg19) chr12:g.52519749A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.548T>C MANE Select ENSP00000252242.4:p.Ile183Thr
ENST00000252242.8:c.548T>C ENSP00000252242.4:p.Ile183Thr
ENST00000549420.1:c.218T>C ENSP00000447209.1:p.Ile73Thr
ENST00000552629.5:n.646T>C
NM_000424.3:c.548T>C NP_000415.2:p.Ile183Thr
NM_000424.4:c.548T>C MANE Select NP_000415.2:p.Ile183Thr
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