Canonical Allele Identifier: CA480069780
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52910576G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52516792G>C , CM000674.2:g.52516792G>C GRCh38
NC_000012.11:g.52910576G>C , CM000674.1:g.52910576G>C GRCh37
NC_000012.10:g.51196843G>C NCBI36
NG_008297.1:g.8668C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.1284C>G MANE Select ENSP00000252242.4:p.Ala428=
ENST00000252242.8:c.1284C>G ENSP00000252242.4:p.Ala428=
ENST00000547890.5:n.662C>G
ENST00000548409.5:c.406C>G
ENST00000549511.5:n.491C>G
ENST00000552629.5:n.1382C>G
NM_000424.3:c.1284C>G NP_000415.2:p.Ala428=
NM_000424.4:c.1284C>G MANE Select NP_000415.2:p.Ala428=