Canonical Allele Identifier: CA384996980

Gene: KRT8

Linked Data

• MyVariant Identifiers: chr12:g.53298482A>C (hg19) ; chr12:g.52904698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904698A>C , CM000674.2:g.52904698A>C	GRCh38
NC_000012.11:g.53298482A>C , CM000674.1:g.53298482A>C	GRCh37
NC_000012.10:g.51584749A>C	NCBI36
NG_008402.1:g.5387T>G
NG_008402.2:g.50169T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.284T>G MANE Select	ENSP00000509398.1:p.Ile95Ser
ENST00000293308.11:c.284T>G	ENSP00000293308.6:p.Ile95Ser
ENST00000546542.1:c.518T>G	ENSP00000450228.1:p.Ile173Ser
ENST00000546583.5:n.355T>G
ENST00000546826.5:c.284T>G	ENSP00000447881.1:p.Ile95Ser
ENST00000546897.5:c.284T>G	ENSP00000447402.1:p.Ile95Ser
ENST00000548998.5:c.404T>G	ENSP00000447040.1:p.Ile135Ser
ENST00000550170.5:n.347T>G
ENST00000552150.5:c.368T>G	ENSP00000449404.1:p.Ile123Ser
ENST00000552551.5:c.284T>G	ENSP00000447566.1:p.Ile95Ser
NM_001256282.1:c.368T>G	NP_001243211.1:p.Ile123Ser
NM_001256293.1:c.284T>G	NP_001243222.1:p.Ile95Ser
NM_002273.3:c.284T>G	NP_002264.1:p.Ile95Ser
NR_045962.1:n.741T>G
NM_001256282.2:c.368T>G	NP_001243211.1:p.Ile123Ser
NM_001256293.2:c.284T>G	NP_001243222.1:p.Ile95Ser
NM_002273.4:c.284T>G MANE Select	NP_002264.1:p.Ile95Ser
NR_045962.2:n.735T>G