Canonical Allele Identifier: CA6586043
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs772832274
ExAC: 12:53069177 C / T
gnomAD v2: 12-53069177-C-T
gnomAD v4: 12-52675393-C-T
MyVariant Identifiers: chr12:g.53069177C>T (hg19) chr12:g.52675393C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675393C>T , CM000674.2:g.52675393C>T GRCh38
NC_000012.11:g.53069177C>T , CM000674.1:g.53069177C>T GRCh37
NC_000012.10:g.51355444C>T NCBI36
NG_008364.1:g.10015G>A
NG_008364.2:g.10015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1735G>A MANE Select ENSP00000252244.3:p.Gly579Ser
NM_006121.3:c.1735G>A NP_006112.3:p.Gly579Ser
NM_006121.4:c.1735G>A MANE Select NP_006112.3:p.Gly579Ser
Search 100 bp 5'
Search 100 bp 3'