Canonical Allele Identifier: CA406419249
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766805A>T , CM000681.2:g.45766805A>T GRCh38
NC_000019.9:g.46270063A>T , CM000681.1:g.46270063A>T GRCh37
NC_000019.8:g.50961903A>T NCBI36
NG_012745.1:g.7435T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1154T>A MANE Select ENSP00000316842.4:p.Val385Asp
ENST00000317578.6:c.1154T>A ENSP00000316842.4:p.Val385Asp
ENST00000560160.1:c.587-694T>A
ENST00000560168.1:c.*342T>A ENSP00000453189.2:n.*342T>A
ENST00000622857.1:c.16-843T>A ENSP00000481365.1:n.16-843T>A
NM_175875.4:c.1154T>A NP_787071.2:p.Val385Asp
NM_175875.5:c.1154T>A MANE Select NP_787071.3:p.Val385Asp