Canonical Allele Identifier: CA480070365
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913652G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519868G>T , CM000674.2:g.52519868G>T GRCh38
NC_000012.11:g.52913652G>T , CM000674.1:g.52913652G>T GRCh37
NC_000012.10:g.51199919G>T NCBI36
NG_008297.1:g.5592C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.429C>A MANE Select ENSP00000252242.4:p.Val143=
ENST00000252242.8:c.429C>A ENSP00000252242.4:p.Val143=
ENST00000549420.1:c.99C>A ENSP00000447209.1:p.Val33=
ENST00000551275.1:c.324C>A ENSP00000448041.1:p.Val108=
ENST00000552629.5:n.527C>A
NM_000424.3:c.429C>A NP_000415.2:p.Val143=
NM_000424.4:c.429C>A MANE Select NP_000415.2:p.Val143=
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