Canonical Allele Identifier: CA480073043
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069196G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675412G>C , CM000674.2:g.52675412G>C GRCh38
NC_000012.11:g.53069196G>C , CM000674.1:g.53069196G>C GRCh37
NC_000012.10:g.51355463G>C NCBI36
NG_008364.1:g.9996C>G
NG_008364.2:g.9996C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1716C>G MANE Select ENSP00000252244.3:p.Gly572=
NM_006121.3:c.1716C>G NP_006112.3:p.Gly572=
NM_006121.4:c.1716C>G MANE Select NP_006112.3:p.Gly572=
Search 100 bp 5'
Search 100 bp 3'