Canonical Allele Identifier: CA480070297
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913535G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519751G>A , CM000674.2:g.52519751G>A GRCh38
NC_000012.11:g.52913535G>A , CM000674.1:g.52913535G>A GRCh37
NC_000012.10:g.51199802G>A NCBI36
NG_008297.1:g.5709C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.546C>T MANE Select ENSP00000252242.4:p.Phe182=
ENST00000252242.8:c.546C>T ENSP00000252242.4:p.Phe182=
ENST00000549420.1:c.216C>T ENSP00000447209.1:p.Phe72=
ENST00000551275.1:c.441C>T ENSP00000448041.1:p.Phe147=
ENST00000552629.5:n.644C>T
NM_000424.3:c.546C>T NP_000415.2:p.Phe182=
NM_000424.4:c.546C>T MANE Select NP_000415.2:p.Phe182=