Canonical Allele Identifier: CA384962369
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52676335T>A , CM000674.2:g.52676335T>A GRCh38
NC_000012.11:g.53070119T>A , CM000674.1:g.53070119T>A GRCh37
NC_000012.10:g.51356386T>A NCBI36
NG_008364.1:g.9073A>T
NG_008364.2:g.9073A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252244.3:c.1415A>T MANE Select ENSP00000252244.3:p.Lys472Met
ENST00000548765.1:n.489A>T
NM_006121.3:c.1415A>T NP_006112.3:p.Lys472Met
NM_006121.4:c.1415A>T MANE Select NP_006112.3:p.Lys472Met