Canonical Allele Identifier: CA2338594239
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766400T= , CM000681.2:g.45766400T= GRCh38
NC_000019.9:g.46269658T= , CM000681.1:g.46269658T= GRCh37
NC_000019.8:g.50961498T= NCBI36
NG_012745.1:g.7840A=

Transcript Alleles

HGVS Amino-acid change
ENST00000317578.7:c.1559A= MANE Select ENSP00000316842.4:p.Asn520=
ENST00000317578.6:c.1559A= ENSP00000316842.4:p.Asn520=
ENST00000560160.1:c.587-289A=
ENST00000560168.1:c.*747A= ENSP00000453189.2:n.*747A=
ENST00000622857.1:c.16-438A= ENSP00000481365.1:n.16-438A=
NM_175875.4:c.1559A= NP_787071.2:p.Asn520=
NM_175875.5:c.1559A= MANE Select NP_787071.3:p.Asn520=