Canonical Allele Identifier: CA384929088
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913612T>G (hg19) chr12:g.52519828T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519828T>G , CM000674.2:g.52519828T>G GRCh38
NC_000012.11:g.52913612T>G , CM000674.1:g.52913612T>G GRCh37
NC_000012.10:g.51199879T>G NCBI36
NG_008297.1:g.5632A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.469A>C MANE Select ENSP00000252242.4:p.Ile157Leu
ENST00000252242.8:c.469A>C ENSP00000252242.4:p.Ile157Leu
ENST00000549420.1:c.139A>C ENSP00000447209.1:p.Ile47Leu
ENST00000551275.1:c.364A>C ENSP00000448041.1:p.Ile122Leu
ENST00000552629.5:n.567A>C
NM_000424.3:c.469A>C NP_000415.2:p.Ile157Leu
NM_000424.4:c.469A>C MANE Select NP_000415.2:p.Ile157Leu
Search 100 bp 5'
Search 100 bp 3'