Canonical Allele Identifier: CA384959453
Gene: KRT1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53069219T>A (hg19) chr12:g.52675435T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675435T>A , CM000674.2:g.52675435T>A GRCh38
NC_000012.11:g.53069219T>A , CM000674.1:g.53069219T>A GRCh37
NC_000012.10:g.51355486T>A NCBI36
NG_008364.1:g.9973A>T
NG_008364.2:g.9973A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1693A>T MANE Select ENSP00000252244.3:p.Ser565Cys
NM_006121.3:c.1693A>T NP_006112.3:p.Ser565Cys
NM_006121.4:c.1693A>T MANE Select NP_006112.3:p.Ser565Cys
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