Canonical Allele Identifier: CA2338594608
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767023G= , CM000681.2:g.45767023G= GRCh38
NC_000019.9:g.46270281G= , CM000681.1:g.46270281G= GRCh37
NC_000019.8:g.50962121G= NCBI36
NG_012745.1:g.7217C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.936C= MANE Select ENSP00000316842.4:p.Pro312=
ENST00000317578.6:c.936C= ENSP00000316842.4:p.Pro312=
ENST00000560160.1:c.587-912C=
ENST00000560168.1:c.*124C= ENSP00000453189.2:n.*124C=
ENST00000622857.1:c.16-1061C= ENSP00000481365.1:n.16-1061C=
NM_175875.4:c.936C= NP_787071.2:p.Pro312=
NM_175875.5:c.936C= MANE Select NP_787071.3:p.Pro312=