Canonical Allele Identifier: CA2338594543
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766914C= , CM000681.2:g.45766914C= GRCh38
NC_000019.9:g.46270172C= , CM000681.1:g.46270172C= GRCh37
NC_000019.8:g.50962012C= NCBI36
NG_012745.1:g.7326G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1045G= MANE Select ENSP00000316842.4:p.Ala349=
ENST00000317578.6:c.1045G= ENSP00000316842.4:p.Ala349=
ENST00000560160.1:c.587-803G=
ENST00000560168.1:c.*233G= ENSP00000453189.2:n.*233G=
ENST00000622857.1:c.16-952G= ENSP00000481365.1:n.16-952G=
NM_175875.4:c.1045G= NP_787071.2:p.Ala349=
NM_175875.5:c.1045G= MANE Select NP_787071.3:p.Ala349=