Canonical Allele Identifier: CA2338594234
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766398A= , CM000681.2:g.45766398A= GRCh38
NC_000019.9:g.46269656A= , CM000681.1:g.46269656A= GRCh37
NC_000019.8:g.50961496A= NCBI36
NG_012745.1:g.7842T=

Transcript Alleles

HGVS Amino-acid change
ENST00000317578.7:c.1561T= MANE Select ENSP00000316842.4:p.Ser521=
ENST00000317578.6:c.1561T= ENSP00000316842.4:p.Ser521=
ENST00000560160.1:c.587-287T=
ENST00000560168.1:c.*749T= ENSP00000453189.2:n.*749T=
ENST00000622857.1:c.16-436T= ENSP00000481365.1:n.16-436T=
NM_175875.4:c.1561T= NP_787071.2:p.Ser521=
NM_175875.5:c.1561T= MANE Select NP_787071.3:p.Ser521=