Canonical Allele Identifier: CA384929289
Gene: KRT5 HGNC NCBI

Linked Data

dbSNP Id: rs1349743696

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519872T>G , CM000674.2:g.52519872T>G GRCh38
NC_000012.11:g.52913656T>G , CM000674.1:g.52913656T>G GRCh37
NC_000012.10:g.51199923T>G NCBI36
NG_008297.1:g.5588A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.425A>C MANE Select ENSP00000252242.4:p.Glu142Ala
ENST00000252242.8:c.425A>C ENSP00000252242.4:p.Glu142Ala
ENST00000549420.1:c.95A>C ENSP00000447209.1:p.Glu32Ala
ENST00000551275.1:c.320A>C ENSP00000448041.1:p.Glu107Ala
ENST00000552629.5:n.523A>C
NM_000424.3:c.425A>C NP_000415.2:p.Glu142Ala
NM_000424.4:c.425A>C MANE Select NP_000415.2:p.Glu142Ala