Canonical Allele Identifier: CA2338594630
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767060G= , CM000681.2:g.45767060G= GRCh38
NC_000019.9:g.46270318G= , CM000681.1:g.46270318G= GRCh37
NC_000019.8:g.50962158G= NCBI36
NG_012745.1:g.7180C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.899C= MANE Select ENSP00000316842.4:p.Ala300=
ENST00000317578.6:c.899C= ENSP00000316842.4:p.Ala300=
ENST00000560160.1:c.587-949C=
ENST00000560168.1:c.*87C= ENSP00000453189.2:n.*87C=
ENST00000622857.1:c.16-1098C= ENSP00000481365.1:n.16-1098C=
NM_175875.4:c.899C= NP_787071.2:p.Ala300=
NM_175875.5:c.899C= MANE Select NP_787071.3:p.Ala300=