Canonical Allele Identifier: CA2338594278
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766482G= , CM000681.2:g.45766482G= GRCh38
NC_000019.9:g.46269740G= , CM000681.1:g.46269740G= GRCh37
NC_000019.8:g.50961580G= NCBI36
NG_012745.1:g.7758C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1477C= MANE Select ENSP00000316842.4:p.Pro493=
ENST00000317578.6:c.1477C= ENSP00000316842.4:p.Pro493=
ENST00000560160.1:c.587-371C=
ENST00000560168.1:c.*665C= ENSP00000453189.2:n.*665C=
ENST00000622857.1:c.16-520C= ENSP00000481365.1:n.16-520C=
NM_175875.4:c.1477C= NP_787071.2:p.Pro493=
NM_175875.5:c.1477C= MANE Select NP_787071.3:p.Pro493=