Canonical Allele Identifier: CA6590601
Gene: KRT8 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52904822A>T , CM000674.2:g.52904822A>T GRCh38
NC_000012.11:g.53298606A>T , CM000674.1:g.53298606A>T GRCh37
NC_000012.10:g.51584873A>T NCBI36
NG_008402.1:g.5263T>A
NG_008402.2:g.50045T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000692008.1:c.160T>A MANE Select ENSP00000509398.1:p.Tyr54Asn
ENST00000293308.11:c.160T>A ENSP00000293308.6:p.Tyr54Asn
ENST00000546542.1:c.394T>A ENSP00000450228.1:p.Tyr132Asn
ENST00000546583.5:n.231T>A
ENST00000546826.5:c.160T>A ENSP00000447881.1:p.Tyr54Asn
ENST00000546897.5:c.160T>A ENSP00000447402.1:p.Tyr54Asn
ENST00000548998.5:c.280T>A ENSP00000447040.1:p.Tyr94Asn
ENST00000550170.5:n.223T>A
ENST00000552150.5:c.244T>A ENSP00000449404.1:p.Tyr82Asn
ENST00000552551.5:c.160T>A ENSP00000447566.1:p.Tyr54Asn
NM_001256282.1:c.244T>A NP_001243211.1:p.Tyr82Asn
NM_001256293.1:c.160T>A NP_001243222.1:p.Tyr54Asn
NM_002273.3:c.160T>A NP_002264.1:p.Tyr54Asn
NR_045962.1:n.617T>A
NM_001256282.2:c.244T>A NP_001243211.1:p.Tyr82Asn
NM_001256293.2:c.160T>A NP_001243222.1:p.Tyr54Asn
NM_002273.4:c.160T>A MANE Select NP_002264.1:p.Tyr54Asn
NR_045962.2:n.611T>A