Canonical Allele Identifier: CA480070393

Gene: KRT5

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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