Canonical Allele Identifier: CA384958743
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675379G>T , CM000674.2:g.52675379G>T GRCh38
NC_000012.11:g.53069163G>T , CM000674.1:g.53069163G>T GRCh37
NC_000012.10:g.51355430G>T NCBI36
NG_008364.1:g.10029C>A
NG_008364.2:g.10029C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1749C>A MANE Select ENSP00000252244.3:p.Ser583Arg
NM_006121.3:c.1749C>A NP_006112.3:p.Ser583Arg
NM_006121.4:c.1749C>A MANE Select NP_006112.3:p.Ser583Arg