Canonical Allele Identifier: CA384959315
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675426A>C , CM000674.2:g.52675426A>C GRCh38
NC_000012.11:g.53069210A>C , CM000674.1:g.53069210A>C GRCh37
NC_000012.10:g.51355477A>C NCBI36
NG_008364.1:g.9982T>G
NG_008364.2:g.9982T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1702T>G MANE Select ENSP00000252244.3:p.Ser568Ala
NM_006121.3:c.1702T>G NP_006112.3:p.Ser568Ala
NM_006121.4:c.1702T>G MANE Select NP_006112.3:p.Ser568Ala