Canonical Allele Identifier: CA384997165

Gene: KRT8

Linked Data

• gnomAD v4: 12-52904782-G-A
• MyVariant Identifiers: chr12:g.53298566G>A (hg19) ; chr12:g.52904782G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.52904782G>A , CM000674.2:g.52904782G>A	GRCh38
NC_000012.11:g.53298566G>A , CM000674.1:g.53298566G>A	GRCh37
NC_000012.10:g.51584833G>A	NCBI36
NG_008402.1:g.5303C>T
NG_008402.2:g.50085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692008.1:c.200C>T MANE Select	ENSP00000509398.1:p.Thr67Met
ENST00000293308.11:c.200C>T	ENSP00000293308.6:p.Thr67Met
ENST00000546542.1:c.434C>T	ENSP00000450228.1:p.Thr145Met
ENST00000546583.5:n.271C>T
ENST00000546826.5:c.200C>T	ENSP00000447881.1:p.Thr67Met
ENST00000546897.5:c.200C>T	ENSP00000447402.1:p.Thr67Met
ENST00000548998.5:c.320C>T	ENSP00000447040.1:p.Thr107Met
ENST00000550170.5:n.263C>T
ENST00000552150.5:c.284C>T	ENSP00000449404.1:p.Thr95Met
ENST00000552551.5:c.200C>T	ENSP00000447566.1:p.Thr67Met
NM_001256282.1:c.284C>T	NP_001243211.1:p.Thr95Met
NM_001256293.1:c.200C>T	NP_001243222.1:p.Thr67Met
NM_002273.3:c.200C>T	NP_002264.1:p.Thr67Met
NR_045962.1:n.657C>T
NM_001256282.2:c.284C>T	NP_001243211.1:p.Thr95Met
NM_001256293.2:c.200C>T	NP_001243222.1:p.Thr67Met
NM_002273.4:c.200C>T MANE Select	NP_002264.1:p.Thr67Met
NR_045962.2:n.651C>T