Canonical Allele Identifier: CA480069714
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910516C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516732C>G , CM000674.2:g.52516732C>G GRCh38
NC_000012.11:g.52910516C>G , CM000674.1:g.52910516C>G GRCh37
NC_000012.10:g.51196783C>G NCBI36
NG_008297.1:g.8728G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1344G>C MANE Select ENSP00000252242.4:p.Arg448=
ENST00000252242.8:c.1344G>C ENSP00000252242.4:p.Arg448=
ENST00000547890.5:n.722G>C
ENST00000548409.5:c.466G>C
ENST00000549511.5:n.551G>C
ENST00000552629.5:n.1442G>C
NM_000424.3:c.1344G>C NP_000415.2:p.Arg448=
NM_000424.4:c.1344G>C MANE Select NP_000415.2:p.Arg448=