Canonical Allele Identifier: CA480070383
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913679G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519895G>T , CM000674.2:g.52519895G>T GRCh38
NC_000012.11:g.52913679G>T , CM000674.1:g.52913679G>T GRCh37
NC_000012.10:g.51199946G>T NCBI36
NG_008297.1:g.5565C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.402C>A MANE Select ENSP00000252242.4:p.Val134=
ENST00000252242.8:c.402C>A ENSP00000252242.4:p.Val134=
ENST00000549420.1:c.72C>A ENSP00000447209.1:p.Val24=
ENST00000551275.1:c.297C>A ENSP00000448041.1:p.Val99=
ENST00000552629.5:n.500C>A
NM_000424.3:c.402C>A NP_000415.2:p.Val134=
NM_000424.4:c.402C>A MANE Select NP_000415.2:p.Val134=
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