Canonical Allele Identifier: CA384960175
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069270C>G (hg19) chr12:g.52675486C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675486C>G , CM000674.2:g.52675486C>G GRCh38
NC_000012.11:g.53069270C>G , CM000674.1:g.53069270C>G GRCh37
NC_000012.10:g.51355537C>G NCBI36
NG_008364.1:g.9922G>C
NG_008364.2:g.9922G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1642G>C MANE Select ENSP00000252244.3:p.Gly548Arg
NM_006121.3:c.1642G>C NP_006112.3:p.Gly548Arg
NM_006121.4:c.1642G>C MANE Select NP_006112.3:p.Gly548Arg
Search 100 bp 5'
Search 100 bp 3'