Canonical Allele Identifier: CA384958998
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675401C>A , CM000674.2:g.52675401C>A GRCh38
NC_000012.11:g.53069185C>A , CM000674.1:g.53069185C>A GRCh37
NC_000012.10:g.51355452C>A NCBI36
NG_008364.1:g.10007G>T
NG_008364.2:g.10007G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1727G>T MANE Select ENSP00000252244.3:p.Gly576Val
NM_006121.3:c.1727G>T NP_006112.3:p.Gly576Val
NM_006121.4:c.1727G>T MANE Select NP_006112.3:p.Gly576Val