Canonical Allele Identifier: CA384930486

Gene: KRT5

Linked Data

• MyVariant Identifiers: chr12:g.52913888G>A (hg19) ; chr12:g.52520104G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52520104G>A , CM000674.2:g.52520104G>A	GRCh38
NC_000012.11:g.52913888G>A , CM000674.1:g.52913888G>A	GRCh37
NC_000012.10:g.51200155G>A	NCBI36
NG_008297.1:g.5356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252242.9:c.193C>T MANE Select	ENSP00000252242.4:p.Leu65Phe
ENST00000252242.8:c.193C>T	ENSP00000252242.4:p.Leu65Phe
ENST00000546577.1:c.193C>T	ENSP00000449651.1:p.Leu65Phe
ENST00000549420.1:c.43+150C>T	ENSP00000447209.1:n.43+150C>T
ENST00000551275.1:c.172+21C>T	ENSP00000448041.1:n.172+21C>T
ENST00000552629.5:n.291C>T
NM_000424.3:c.193C>T	NP_000415.2:p.Leu65Phe
NM_000424.4:c.193C>T MANE Select	NP_000415.2:p.Leu65Phe