Canonical Allele Identifier: CA479848372
Gene: KRT5 HGNC NCBI

Linked Data

gnomAD v4: 12-52519134-C-T
MyVariant Identifiers: chr12:g.52912918C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519134C>T , CM000674.2:g.52519134C>T GRCh38
NC_000012.11:g.52912918C>T , CM000674.1:g.52912918C>T GRCh37
NC_000012.10:g.51199185C>T NCBI36
NG_008297.1:g.6326G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.582G>A MANE Select ENSP00000252242.4:p.Lys194=
ENST00000252242.8:c.582G>A ENSP00000252242.4:p.Lys194=
ENST00000549420.1:c.252G>A ENSP00000447209.1:p.Lys84=
ENST00000551013.1:n.110G>A
ENST00000552629.5:n.680G>A
NM_000424.3:c.582G>A NP_000415.2:p.Lys194=
NM_000424.4:c.582G>A MANE Select NP_000415.2:p.Lys194=
Search 100 bp 5'
Search 100 bp 3'