Canonical Allele Identifier: CA480077941
Gene: KRT8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53298552G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52904768G>A , CM000674.2:g.52904768G>A GRCh38
NC_000012.11:g.53298552G>A , CM000674.1:g.53298552G>A GRCh37
NC_000012.10:g.51584819G>A NCBI36
NG_008402.1:g.5317C>T
NG_008402.2:g.50099C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000692008.1:c.214C>T MANE Select ENSP00000509398.1:p.Leu72=
ENST00000293308.11:c.214C>T ENSP00000293308.6:p.Leu72=
ENST00000546542.1:c.448C>T ENSP00000450228.1:p.Leu150=
ENST00000546583.5:n.285C>T
ENST00000546826.5:c.214C>T ENSP00000447881.1:p.Leu72=
ENST00000546897.5:c.214C>T ENSP00000447402.1:p.Leu72=
ENST00000548998.5:c.334C>T ENSP00000447040.1:p.Leu112=
ENST00000550170.5:n.277C>T
ENST00000552150.5:c.298C>T ENSP00000449404.1:p.Leu100=
ENST00000552551.5:c.214C>T ENSP00000447566.1:p.Leu72=
NM_001256282.1:c.298C>T NP_001243211.1:p.Leu100=
NM_001256293.1:c.214C>T NP_001243222.1:p.Leu72=
NM_002273.3:c.214C>T NP_002264.1:p.Leu72=
NR_045962.1:n.671C>T
NM_001256282.2:c.298C>T NP_001243211.1:p.Leu100=
NM_001256293.2:c.214C>T NP_001243222.1:p.Leu72=
NM_002273.4:c.214C>T MANE Select NP_002264.1:p.Leu72=
NR_045962.2:n.665C>T