Canonical Allele Identifier: CA9520721
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2359580
ClinVar RCV Id: RCV004205313
dbSNP Id: rs764670510

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767027G>A , CM000681.2:g.45767027G>A GRCh38
NC_000019.9:g.46270285G>A , CM000681.1:g.46270285G>A GRCh37
NC_000019.8:g.50962125G>A NCBI36
NG_012745.1:g.7213C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.932C>T MANE Select ENSP00000316842.4:p.Pro311Leu
ENST00000317578.6:c.932C>T ENSP00000316842.4:p.Pro311Leu
ENST00000560160.1:c.587-916C>T
ENST00000560168.1:c.*120C>T ENSP00000453189.2:n.*120C>T
ENST00000622857.1:c.16-1065C>T ENSP00000481365.1:n.16-1065C>T
NM_175875.4:c.932C>T NP_787071.2:p.Pro311Leu
NM_175875.5:c.932C>T MANE Select NP_787071.3:p.Pro311Leu