Canonical Allele Identifier: CA384931314
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52914032A>C (hg19) chr12:g.52520248A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520248A>C , CM000674.2:g.52520248A>C GRCh38
NC_000012.11:g.52914032A>C , CM000674.1:g.52914032A>C GRCh37
NC_000012.10:g.51200299A>C NCBI36
NG_008297.1:g.5212T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.49T>G MANE Select ENSP00000252242.4:p.Phe17Val
ENST00000252242.8:c.49T>G ENSP00000252242.4:p.Phe17Val
ENST00000546577.1:c.49T>G ENSP00000449651.1:p.Phe17Val
ENST00000549420.1:c.43+6T>G ENSP00000447209.1:n.43+6T>G
ENST00000551275.1:c.49T>G ENSP00000448041.1:p.Phe17Val
ENST00000552629.5:n.147T>G
NM_000424.3:c.49T>G NP_000415.2:p.Phe17Val
NM_000424.4:c.49T>G MANE Select NP_000415.2:p.Phe17Val
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