Canonical Allele Identifier: CA216776

Gene: KRT5

Linked Data

• ClinVar Variation Id: 66275
• ClinVar RCV Id: RCV000056634 ; RCV000250318 ; RCV000327778
• dbSNP Id: rs641615
• ExAC: 12:52912909 G / T
• gnomAD v2: 12-52912909-G-T
• gnomAD v3: 12-52519125-G-T
• gnomAD v4: 12-52519125-G-T
• MyVariant Identifiers: chr12:g.52912909G>T (hg19) ; chr12:g.52519125G>T (hg38)
• PubMed: PMID:16581562 ; PMID:19578363

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519125G>T , CM000674.2:g.52519125G>T	GRCh38
NC_000012.11:g.52912909G>T , CM000674.1:g.52912909G>T	GRCh37
NC_000012.10:g.51199176G>T	NCBI36
NG_008297.1:g.6335C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252242.9:c.591C>A MANE Select	ENSP00000252242.4:p.Asp197Glu
ENST00000252242.8:c.591C>A	ENSP00000252242.4:p.Asp197Glu
ENST00000549420.1:c.261C>A	ENSP00000447209.1:p.Asp87Glu
ENST00000551013.1:n.119C>A
ENST00000552629.5:n.689C>A
NM_000424.3:c.591C>A	NP_000415.2:p.Asp197Glu
NM_000424.4:c.591C>A MANE Select	NP_000415.2:p.Asp197Glu