Canonical Allele Identifier: CA480069724
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1938617302
MyVariant Identifiers: chr12:g.52910519G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516735G>T , CM000674.2:g.52516735G>T GRCh38
NC_000012.11:g.52910519G>T , CM000674.1:g.52910519G>T GRCh37
NC_000012.10:g.51196786G>T NCBI36
NG_008297.1:g.8725C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1341C>A MANE Select ENSP00000252242.4:p.Ala447=
ENST00000252242.8:c.1341C>A ENSP00000252242.4:p.Ala447=
ENST00000547890.5:n.719C>A
ENST00000548409.5:c.463C>A
ENST00000549511.5:n.548C>A
ENST00000552629.5:n.1439C>A
NM_000424.3:c.1341C>A NP_000415.2:p.Ala447=
NM_000424.4:c.1341C>A MANE Select NP_000415.2:p.Ala447=