Canonical Allele Identifier: CA384923459
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910440G>C (hg19) chr12:g.52516656G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516656G>C , CM000674.2:g.52516656G>C GRCh38
NC_000012.11:g.52910440G>C , CM000674.1:g.52910440G>C GRCh37
NC_000012.10:g.51196707G>C NCBI36
NG_008297.1:g.8804C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1420C>G MANE Select ENSP00000252242.4:p.Leu474Val
ENST00000252242.8:c.1420C>G ENSP00000252242.4:p.Leu474Val
ENST00000548409.5:c.542C>G
ENST00000549511.5:n.627C>G
ENST00000552629.5:n.1518C>G
NM_000424.3:c.1420C>G NP_000415.2:p.Leu474Val
NM_000424.4:c.1420C>G MANE Select NP_000415.2:p.Leu474Val
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