Canonical Allele Identifier: CA384959438
Gene: KRT1 HGNC NCBI

Linked Data

dbSNP Id: rs1415994629
gnomAD v2: 12-53069218-C-T
gnomAD v4: 12-52675434-C-T
MyVariant Identifiers: chr12:g.53069218C>T (hg19) chr12:g.52675434C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675434C>T , CM000674.2:g.52675434C>T GRCh38
NC_000012.11:g.53069218C>T , CM000674.1:g.53069218C>T GRCh37
NC_000012.10:g.51355485C>T NCBI36
NG_008364.1:g.9974G>A
NG_008364.2:g.9974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1694G>A MANE Select ENSP00000252244.3:p.Ser565Asn
NM_006121.3:c.1694G>A NP_006112.3:p.Ser565Asn
NM_006121.4:c.1694G>A MANE Select NP_006112.3:p.Ser565Asn
Search 100 bp 5'
Search 100 bp 3'