Canonical Allele Identifier: CA2338594604
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767019G= , CM000681.2:g.45767019G= GRCh38
NC_000019.9:g.46270277G= , CM000681.1:g.46270277G= GRCh37
NC_000019.8:g.50962117G= NCBI36
NG_012745.1:g.7221C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.940C= MANE Select ENSP00000316842.4:p.Pro314=
ENST00000317578.6:c.940C= ENSP00000316842.4:p.Pro314=
ENST00000560160.1:c.587-908C=
ENST00000560168.1:c.*128C= ENSP00000453189.2:n.*128C=
ENST00000622857.1:c.16-1057C= ENSP00000481365.1:n.16-1057C=
NM_175875.4:c.940C= NP_787071.2:p.Pro314=
NM_175875.5:c.940C= MANE Select NP_787071.3:p.Pro314=