Canonical Allele Identifier: CA384923869
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910514A>C (hg19) chr12:g.52516730A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516730A>C , CM000674.2:g.52516730A>C GRCh38
NC_000012.11:g.52910514A>C , CM000674.1:g.52910514A>C GRCh37
NC_000012.10:g.51196781A>C NCBI36
NG_008297.1:g.8730T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1346T>G MANE Select ENSP00000252242.4:p.Leu449Arg
ENST00000252242.8:c.1346T>G ENSP00000252242.4:p.Leu449Arg
ENST00000547890.5:n.724T>G
ENST00000548409.5:c.468T>G
ENST00000549511.5:n.553T>G
ENST00000552629.5:n.1444T>G
NM_000424.3:c.1346T>G NP_000415.2:p.Leu449Arg
NM_000424.4:c.1346T>G MANE Select NP_000415.2:p.Leu449Arg
Search 100 bp 5'
Search 100 bp 3'