Canonical Allele Identifier: CA144199
Community Standard Title: NM_002273.4(KRT8):c.1033G>T (p.Ala345Ser)
Gene: KRT8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52898848C>A , CM000674.2:g.52898848C>A GRCh38
NC_000012.11:g.53292632C>A , CM000674.1:g.53292632C>A GRCh37
NC_000012.10:g.51578899C>A NCBI36
NG_008402.1:g.11237G>T
NG_008402.2:g.56019G>T

Transcript Alleles

HGVS Amino-acid Change
NM_002273.4:c.1033G>T MANE Select NP_002264.1:p.Ala345Ser
ENST00000692008.1:c.1033G>T MANE Select ENSP00000509398.1:p.Ala345Ser
NM_001256282.1:c.1117G>T NP_001243211.1:p.Ala373Ser
NM_001256282.2:c.1117G>T NP_001243211.1:p.Ala373Ser
NM_001256293.1:c.1033G>T NP_001243222.1:p.Ala345Ser
NM_001256293.2:c.1033G>T NP_001243222.1:p.Ala345Ser
NM_002273.3:c.1033G>T NP_002264.1:p.Ala345Ser
NR_045962.1:n.1490G>T
NR_045962.2:n.1484G>T
ENST00000293308.11:c.1033G>T ENSP00000293308.6:p.Ala345Ser
ENST00000546583.5:n.2223G>T
ENST00000546897.5:c.1033G>T ENSP00000447402.1:p.Ala345Ser
ENST00000547031.5:n.504G>T
ENST00000550170.5:n.1571G>T
ENST00000552150.5:c.1117G>T ENSP00000449404.1:p.Ala373Ser
ENST00000552551.5:c.1033G>T ENSP00000447566.1:p.Ala345Ser