Canonical Allele Identifier: CA216724
Gene: KRT5 HGNC NCBI

Linked Data

ClinVar Variation Id: 14640
dbSNP Id: rs58058996

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519815A>C , CM000674.2:g.52519815A>C GRCh38
NC_000012.11:g.52913599A>C , CM000674.1:g.52913599A>C GRCh37
NC_000012.10:g.51199866A>C NCBI36
NG_008297.1:g.5645T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252242.9:c.482T>G MANE Select ENSP00000252242.4:p.Ile161Ser
ENST00000252242.8:c.482T>G ENSP00000252242.4:p.Ile161Ser
ENST00000549420.1:c.152T>G ENSP00000447209.1:p.Ile51Ser
ENST00000551275.1:c.377T>G ENSP00000448041.1:p.Ile126Ser
ENST00000552629.5:n.580T>G
NM_000424.3:c.482T>G NP_000415.2:p.Ile161Ser
NM_000424.4:c.482T>G MANE Select NP_000415.2:p.Ile161Ser