Canonical Allele Identifier: CA384959338
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675428C>A , CM000674.2:g.52675428C>A GRCh38
NC_000012.11:g.53069212C>A , CM000674.1:g.53069212C>A GRCh37
NC_000012.10:g.51355479C>A NCBI36
NG_008364.1:g.9980G>T
NG_008364.2:g.9980G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1700G>T MANE Select ENSP00000252244.3:p.Gly567Val
NM_006121.3:c.1700G>T NP_006112.3:p.Gly567Val
NM_006121.4:c.1700G>T MANE Select NP_006112.3:p.Gly567Val