Canonical Allele Identifier: CA384923998
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1938617620

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516757T>G , CM000674.2:g.52516757T>G GRCh38
NC_000012.11:g.52910541T>G , CM000674.1:g.52910541T>G GRCh37
NC_000012.10:g.51196808T>G NCBI36
NG_008297.1:g.8703A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1319A>C MANE Select ENSP00000252242.4:p.Gln440Pro
ENST00000252242.8:c.1319A>C ENSP00000252242.4:p.Gln440Pro
ENST00000547890.5:n.697A>C
ENST00000548409.5:c.441A>C
ENST00000549511.5:n.526A>C
ENST00000552629.5:n.1417A>C
NM_000424.3:c.1319A>C NP_000415.2:p.Gln440Pro
NM_000424.4:c.1319A>C MANE Select NP_000415.2:p.Gln440Pro