Canonical Allele Identifier: CA384997083

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298527A>T (hg19) ; chr12:g.52904743A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904743A>T , CM000674.2:g.52904743A>T	GRCh38
NC_000012.11:g.53298527A>T , CM000674.1:g.53298527A>T	GRCh37
NC_000012.10:g.51584794A>T	NCBI36
NG_008402.1:g.5342T>A
NG_008402.2:g.50124T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.239T>A MANE Select	ENSP00000509398.1:p.Val80Glu
ENST00000293308.11:c.239T>A	ENSP00000293308.6:p.Val80Glu
ENST00000546542.1:c.473T>A	ENSP00000450228.1:p.Val158Glu
ENST00000546583.5:n.310T>A
ENST00000546826.5:c.239T>A	ENSP00000447881.1:p.Val80Glu
ENST00000546897.5:c.239T>A	ENSP00000447402.1:p.Val80Glu
ENST00000548998.5:c.359T>A	ENSP00000447040.1:p.Val120Glu
ENST00000550170.5:n.302T>A
ENST00000552150.5:c.323T>A	ENSP00000449404.1:p.Val108Glu
ENST00000552551.5:c.239T>A	ENSP00000447566.1:p.Val80Glu
NM_001256282.1:c.323T>A	NP_001243211.1:p.Val108Glu
NM_001256293.1:c.239T>A	NP_001243222.1:p.Val80Glu
NM_002273.3:c.239T>A	NP_002264.1:p.Val80Glu
NR_045962.1:n.696T>A
NM_001256282.2:c.323T>A	NP_001243211.1:p.Val108Glu
NM_001256293.2:c.239T>A	NP_001243222.1:p.Val80Glu
NM_002273.4:c.239T>A MANE Select	NP_002264.1:p.Val80Glu
NR_045962.2:n.690T>A