Canonical Allele Identifier: CA384962351
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52676330C>G , CM000674.2:g.52676330C>G GRCh38
NC_000012.11:g.53070114C>G , CM000674.1:g.53070114C>G GRCh37
NC_000012.10:g.51356381C>G NCBI36
NG_008364.1:g.9078G>C
NG_008364.2:g.9078G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000252244.3:c.1420G>C MANE Select ENSP00000252244.3:p.Ala474Pro
ENST00000548765.1:n.494G>C
NM_006121.3:c.1420G>C NP_006112.3:p.Ala474Pro
NM_006121.4:c.1420G>C MANE Select NP_006112.3:p.Ala474Pro