Canonical Allele Identifier: CA384996986

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298485T>A (hg19) ; chr12:g.52904701T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904701T>A , CM000674.2:g.52904701T>A	GRCh38
NC_000012.11:g.53298485T>A , CM000674.1:g.53298485T>A	GRCh37
NC_000012.10:g.51584752T>A	NCBI36
NG_008402.1:g.5384A>T
NG_008402.2:g.50166A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.281A>T MANE Select	ENSP00000509398.1:p.Gln94Leu
ENST00000293308.11:c.281A>T	ENSP00000293308.6:p.Gln94Leu
ENST00000546542.1:c.515A>T	ENSP00000450228.1:p.Gln172Leu
ENST00000546583.5:n.352A>T
ENST00000546826.5:c.281A>T	ENSP00000447881.1:p.Gln94Leu
ENST00000546897.5:c.281A>T	ENSP00000447402.1:p.Gln94Leu
ENST00000548998.5:c.401A>T	ENSP00000447040.1:p.Gln134Leu
ENST00000550170.5:n.344A>T
ENST00000552150.5:c.365A>T	ENSP00000449404.1:p.Gln122Leu
ENST00000552551.5:c.281A>T	ENSP00000447566.1:p.Gln94Leu
NM_001256282.1:c.365A>T	NP_001243211.1:p.Gln122Leu
NM_001256293.1:c.281A>T	NP_001243222.1:p.Gln94Leu
NM_002273.3:c.281A>T	NP_002264.1:p.Gln94Leu
NR_045962.1:n.738A>T
NM_001256282.2:c.365A>T	NP_001243211.1:p.Gln122Leu
NM_001256293.2:c.281A>T	NP_001243222.1:p.Gln94Leu
NM_002273.4:c.281A>T MANE Select	NP_002264.1:p.Gln94Leu
NR_045962.2:n.732A>T