Canonical Allele Identifier: CA384959676
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675452T>G , CM000674.2:g.52675452T>G GRCh38
NC_000012.11:g.53069236T>G , CM000674.1:g.53069236T>G GRCh37
NC_000012.10:g.51355503T>G NCBI36
NG_008364.1:g.9956A>C
NG_008364.2:g.9956A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1676A>C MANE Select ENSP00000252244.3:p.Tyr559Ser
NM_006121.3:c.1676A>C NP_006112.3:p.Tyr559Ser
NM_006121.4:c.1676A>C MANE Select NP_006112.3:p.Tyr559Ser