Canonical Allele Identifier: CA384929459
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913689C>A (hg19) chr12:g.52519905C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519905C>A , CM000674.2:g.52519905C>A GRCh38
NC_000012.11:g.52913689C>A , CM000674.1:g.52913689C>A GRCh37
NC_000012.10:g.51199956C>A NCBI36
NG_008297.1:g.5555G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.392G>T MANE Select ENSP00000252242.4:p.Gly131Val
ENST00000252242.8:c.392G>T ENSP00000252242.4:p.Gly131Val
ENST00000546577.1:c.392G>T ENSP00000449651.1:p.Gly131Val
ENST00000549420.1:c.62G>T ENSP00000447209.1:p.Gly21Val
ENST00000551275.1:c.287G>T ENSP00000448041.1:p.Gly96Val
ENST00000552629.5:n.490G>T
NM_000424.3:c.392G>T NP_000415.2:p.Gly131Val
NM_000424.4:c.392G>T MANE Select NP_000415.2:p.Gly131Val
Search 100 bp 5'
Search 100 bp 3'