Canonical Allele Identifier: CA480070499

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52913766A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52519982A>G , CM000674.2:g.52519982A>G	GRCh38
NC_000012.11:g.52913766A>G , CM000674.1:g.52913766A>G	GRCh37
NC_000012.10:g.51200033A>G	NCBI36
NG_008297.1:g.5478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.315T>C MANE Select	ENSP00000252242.4:p.Phe105=
ENST00000252242.8:c.315T>C	ENSP00000252242.4:p.Phe105=
ENST00000546577.1:c.315T>C	ENSP00000449651.1:p.Phe105=
ENST00000549420.1:c.44-59T>C	ENSP00000447209.1:n.44-59T>C
ENST00000551275.1:c.210T>C	ENSP00000448041.1:p.Phe70=
ENST00000552629.5:n.413T>C
NM_000424.3:c.315T>C	NP_000415.2:p.Phe105=
NM_000424.4:c.315T>C MANE Select	NP_000415.2:p.Phe105=