Canonical Allele Identifier: CA384923858
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52516727-A-G
MyVariant Identifiers: chr12:g.52910511A>G (hg19) chr12:g.52516727A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516727A>G , CM000674.2:g.52516727A>G GRCh38
NC_000012.11:g.52910511A>G , CM000674.1:g.52910511A>G GRCh37
NC_000012.10:g.51196778A>G NCBI36
NG_008297.1:g.8733T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1349T>C MANE Select ENSP00000252242.4:p.Leu450Pro
ENST00000252242.8:c.1349T>C ENSP00000252242.4:p.Leu450Pro
ENST00000547890.5:n.727T>C
ENST00000548409.5:c.471T>C
ENST00000549511.5:n.556T>C
ENST00000552629.5:n.1447T>C
NM_000424.3:c.1349T>C NP_000415.2:p.Leu450Pro
NM_000424.4:c.1349T>C MANE Select NP_000415.2:p.Leu450Pro
Search 100 bp 5'
Search 100 bp 3'