Canonical Allele Identifier: CA384929261
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 546131
ClinVar RCV Id: RCV000657959
dbSNP Id: rs1555156480
MyVariant Identifiers: chr12:g.52913647A>T (hg19) chr12:g.52519863A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519863A>T , CM000674.2:g.52519863A>T GRCh38
NC_000012.11:g.52913647A>T , CM000674.1:g.52913647A>T GRCh37
NC_000012.10:g.51199914A>T NCBI36
NG_008297.1:g.5597T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.434T>A MANE Select ENSP00000252242.4:p.Val145Asp
ENST00000252242.8:c.434T>A ENSP00000252242.4:p.Val145Asp
ENST00000549420.1:c.104T>A ENSP00000447209.1:p.Val35Asp
ENST00000551275.1:c.329T>A ENSP00000448041.1:p.Val110Asp
ENST00000552629.5:n.532T>A
NM_000424.3:c.434T>A NP_000415.2:p.Val145Asp
NM_000424.4:c.434T>A MANE Select NP_000415.2:p.Val145Asp
Search 100 bp 5'
Search 100 bp 3'