Canonical Allele Identifier: CA480070392
Gene: KRT5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.52913691A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52519907A>C , CM000674.2:g.52519907A>C GRCh38
NC_000012.11:g.52913691A>C , CM000674.1:g.52913691A>C GRCh37
NC_000012.10:g.51199958A>C NCBI36
NG_008297.1:g.5553T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252242.9:c.390T>G MANE Select ENSP00000252242.4:p.Pro130=
ENST00000252242.8:c.390T>G ENSP00000252242.4:p.Pro130=
ENST00000546577.1:c.390T>G ENSP00000449651.1:p.Pro130=
ENST00000549420.1:c.60T>G ENSP00000447209.1:p.Pro20=
ENST00000551275.1:c.285T>G ENSP00000448041.1:p.Pro95=
ENST00000552629.5:n.488T>G
NM_000424.3:c.390T>G NP_000415.2:p.Pro130=
NM_000424.4:c.390T>G MANE Select NP_000415.2:p.Pro130=