Canonical Allele Identifier: CA2338594605
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767020C= , CM000681.2:g.45767020C= GRCh38
NC_000019.9:g.46270278C= , CM000681.1:g.46270278C= GRCh37
NC_000019.8:g.50962118C= NCBI36
NG_012745.1:g.7220G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.939G= MANE Select ENSP00000316842.4:p.Ala313=
ENST00000317578.6:c.939G= ENSP00000316842.4:p.Ala313=
ENST00000560160.1:c.587-909G=
ENST00000560168.1:c.*127G= ENSP00000453189.2:n.*127G=
ENST00000622857.1:c.16-1058G= ENSP00000481365.1:n.16-1058G=
NM_175875.4:c.939G= NP_787071.2:p.Ala313=
NM_175875.5:c.939G= MANE Select NP_787071.3:p.Ala313=