Canonical Allele Identifier: CA384959151
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675410-C-A
MyVariant Identifiers: chr12:g.53069194C>A (hg19) chr12:g.52675410C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675410C>A , CM000674.2:g.52675410C>A GRCh38
NC_000012.11:g.53069194C>A , CM000674.1:g.53069194C>A GRCh37
NC_000012.10:g.51355461C>A NCBI36
NG_008364.1:g.9998G>T
NG_008364.2:g.9998G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1718G>T MANE Select ENSP00000252244.3:p.Gly573Val
NM_006121.3:c.1718G>T NP_006112.3:p.Gly573Val
NM_006121.4:c.1718G>T MANE Select NP_006112.3:p.Gly573Val
Search 100 bp 5'
Search 100 bp 3'