Canonical Allele Identifier: CA480069580
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910441C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516657C>G , CM000674.2:g.52516657C>G GRCh38
NC_000012.11:g.52910441C>G , CM000674.1:g.52910441C>G GRCh37
NC_000012.10:g.51196708C>G NCBI36
NG_008297.1:g.8803G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1419G>C MANE Select ENSP00000252242.4:p.Leu473=
ENST00000252242.8:c.1419G>C ENSP00000252242.4:p.Leu473=
ENST00000548409.5:c.541G>C
ENST00000549511.5:n.626G>C
ENST00000552629.5:n.1517G>C
NM_000424.3:c.1419G>C NP_000415.2:p.Leu473=
NM_000424.4:c.1419G>C MANE Select NP_000415.2:p.Leu473=
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