Canonical Allele Identifier: CA384958616
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069153A>C (hg19) chr12:g.52675369A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675369A>C , CM000674.2:g.52675369A>C GRCh38
NC_000012.11:g.53069153A>C , CM000674.1:g.53069153A>C GRCh37
NC_000012.10:g.51355420A>C NCBI36
NG_008364.1:g.10039T>G
NG_008364.2:g.10039T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1759T>G MANE Select ENSP00000252244.3:p.Tyr587Asp
NM_006121.3:c.1759T>G NP_006112.3:p.Tyr587Asp
NM_006121.4:c.1759T>G MANE Select NP_006112.3:p.Tyr587Asp
Search 100 bp 5'
Search 100 bp 3'