Canonical Allele Identifier: CA2338594625

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767050G= , CM000681.2:g.45767050G=	GRCh38
NC_000019.9:g.46270308G= , CM000681.1:g.46270308G=	GRCh37
NC_000019.8:g.50962148G=	NCBI36
NG_012745.1:g.7190C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.909C= MANE Select	ENSP00000316842.4:p.Ser303=
ENST00000317578.6:c.909C=	ENSP00000316842.4:p.Ser303=
ENST00000560160.1:c.587-939C=
ENST00000560168.1:c.*97C=	ENSP00000453189.2:n.*97C=
ENST00000622857.1:c.16-1088C=	ENSP00000481365.1:n.16-1088C=
NM_175875.4:c.909C=	NP_787071.2:p.Ser303=
NM_175875.5:c.909C= MANE Select	NP_787071.3:p.Ser303=