Canonical Allele Identifier: CA6582948
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2345990
ClinVar RCV Id: RCV002936544
dbSNP Id: rs374322915
ExAC: 12:52914038 G / A
gnomAD v2: 12-52914038-G-A
gnomAD v3: 12-52520254-G-A
gnomAD v4: 12-52520254-G-A
MyVariant Identifiers: chr12:g.52914038G>A (hg19) chr12:g.52520254G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520254G>A , CM000674.2:g.52520254G>A GRCh38
NC_000012.11:g.52914038G>A , CM000674.1:g.52914038G>A GRCh37
NC_000012.10:g.51200305G>A NCBI36
NG_008297.1:g.5206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.43C>T MANE Select ENSP00000252242.4:p.Arg15Cys
ENST00000252242.8:c.43C>T ENSP00000252242.4:p.Arg15Cys
ENST00000546577.1:c.43C>T ENSP00000449651.1:p.Arg15Cys
ENST00000549420.1:c.43C>T ENSP00000447209.1:p.Arg15Cys
ENST00000551275.1:c.43C>T ENSP00000448041.1:p.Arg15Cys
ENST00000552629.5:n.141C>T
NM_000424.3:c.43C>T NP_000415.2:p.Arg15Cys
NM_000424.4:c.43C>T MANE Select NP_000415.2:p.Arg15Cys
Search 100 bp 5'
Search 100 bp 3'