Canonical Allele Identifier: CA406418778
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766700T>C , CM000681.2:g.45766700T>C GRCh38
NC_000019.9:g.46269958T>C , CM000681.1:g.46269958T>C GRCh37
NC_000019.8:g.50961798T>C NCBI36
NG_012745.1:g.7540A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1259A>G MANE Select ENSP00000316842.4:p.Glu420Gly
ENST00000317578.6:c.1259A>G ENSP00000316842.4:p.Glu420Gly
ENST00000560160.1:c.587-589A>G
ENST00000560168.1:c.*447A>G ENSP00000453189.2:n.*447A>G
ENST00000622857.1:c.16-738A>G ENSP00000481365.1:n.16-738A>G
NM_175875.4:c.1259A>G NP_787071.2:p.Glu420Gly
NM_175875.5:c.1259A>G MANE Select NP_787071.3:p.Glu420Gly