Canonical Allele Identifier: CA384997050

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298512T>A (hg19) ; chr12:g.52904728T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904728T>A , CM000674.2:g.52904728T>A	GRCh38
NC_000012.11:g.53298512T>A , CM000674.1:g.53298512T>A	GRCh37
NC_000012.10:g.51584779T>A	NCBI36
NG_008402.1:g.5357A>T
NG_008402.2:g.50139A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.254A>T MANE Select	ENSP00000509398.1:p.Gln85Leu
ENST00000293308.11:c.254A>T	ENSP00000293308.6:p.Gln85Leu
ENST00000546542.1:c.488A>T	ENSP00000450228.1:p.Gln163Leu
ENST00000546583.5:n.325A>T
ENST00000546826.5:c.254A>T	ENSP00000447881.1:p.Gln85Leu
ENST00000546897.5:c.254A>T	ENSP00000447402.1:p.Gln85Leu
ENST00000548998.5:c.374A>T	ENSP00000447040.1:p.Gln125Leu
ENST00000550170.5:n.317A>T
ENST00000552150.5:c.338A>T	ENSP00000449404.1:p.Gln113Leu
ENST00000552551.5:c.254A>T	ENSP00000447566.1:p.Gln85Leu
NM_001256282.1:c.338A>T	NP_001243211.1:p.Gln113Leu
NM_001256293.1:c.254A>T	NP_001243222.1:p.Gln85Leu
NM_002273.3:c.254A>T	NP_002264.1:p.Gln85Leu
NR_045962.1:n.711A>T
NM_001256282.2:c.338A>T	NP_001243211.1:p.Gln113Leu
NM_001256293.2:c.254A>T	NP_001243222.1:p.Gln85Leu
NM_002273.4:c.254A>T MANE Select	NP_002264.1:p.Gln85Leu
NR_045962.2:n.705A>T