Canonical Allele Identifier: CA384959607
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069230G>C (hg19) chr12:g.52675446G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675446G>C , CM000674.2:g.52675446G>C GRCh38
NC_000012.11:g.53069230G>C , CM000674.1:g.53069230G>C GRCh37
NC_000012.10:g.51355497G>C NCBI36
NG_008364.1:g.9962C>G
NG_008364.2:g.9962C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1682C>G MANE Select ENSP00000252244.3:p.Ser561Cys
NM_006121.3:c.1682C>G NP_006112.3:p.Ser561Cys
NM_006121.4:c.1682C>G MANE Select NP_006112.3:p.Ser561Cys
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