Canonical Allele Identifier: CA480073040
Gene: KRT1 HGNC NCBI

Linked Data

gnomAD v4: 12-52675409-G-A
MyVariant Identifiers: chr12:g.53069193G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52675409G>A , CM000674.2:g.52675409G>A GRCh38
NC_000012.11:g.53069193G>A , CM000674.1:g.53069193G>A GRCh37
NC_000012.10:g.51355460G>A NCBI36
NG_008364.1:g.9999C>T
NG_008364.2:g.9999C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.1719C>T MANE Select ENSP00000252244.3:p.Gly573=
NM_006121.3:c.1719C>T NP_006112.3:p.Gly573=
NM_006121.4:c.1719C>T MANE Select NP_006112.3:p.Gly573=
Search 100 bp 5'
Search 100 bp 3'