Canonical Allele Identifier: CA384958685
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs768764062
gnomAD v4: 12-52675375-C-T
MyVariant Identifiers: chr12:g.53069159C>T (hg19) chr12:g.52675375C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675375C>T , CM000674.2:g.52675375C>T GRCh38
NC_000012.11:g.53069159C>T , CM000674.1:g.53069159C>T GRCh37
NC_000012.10:g.51355426C>T NCBI36
NG_008364.1:g.10033G>A
NG_008364.2:g.10033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1753G>A MANE Select ENSP00000252244.3:p.Gly585Arg
NM_006121.3:c.1753G>A NP_006112.3:p.Gly585Arg
NM_006121.4:c.1753G>A MANE Select NP_006112.3:p.Gly585Arg
Search 100 bp 5'
Search 100 bp 3'