Canonical Allele Identifier: CA16619574
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 419591
ClinVar RCV Id: RCV000484793
dbSNP Id: rs1064793977

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52520296T>C , CM000674.2:g.52520296T>C GRCh38
NC_000012.11:g.52914080T>C , CM000674.1:g.52914080T>C GRCh37
NC_000012.10:g.51200347T>C NCBI36
NG_008297.1:g.5164A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.1A>G MANE Select ENSP00000252242.4:p.Met1Val
ENST00000252242.8:c.1A>G ENSP00000252242.4:p.Met1Val
ENST00000546577.1:c.1A>G ENSP00000449651.1:p.Met1Val
ENST00000549420.1:c.1A>G ENSP00000447209.1:p.Met1Val
ENST00000551275.1:c.1A>G ENSP00000448041.1:p.Met1Val
ENST00000552629.5:n.99A>G
NM_000424.3:c.1A>G NP_000415.2:p.Met1Val
NM_000424.4:c.1A>G MANE Select NP_000415.2:p.Met1Val