Canonical Allele Identifier: CA384959269
Gene: KRT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675420C>T , CM000674.2:g.52675420C>T GRCh38
NC_000012.11:g.53069204C>T , CM000674.1:g.53069204C>T GRCh37
NC_000012.10:g.51355471C>T NCBI36
NG_008364.1:g.9988G>A
NG_008364.2:g.9988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1708G>A MANE Select ENSP00000252244.3:p.Gly570Ser
NM_006121.3:c.1708G>A NP_006112.3:p.Gly570Ser
NM_006121.4:c.1708G>A MANE Select NP_006112.3:p.Gly570Ser