Canonical Allele Identifier: CA2338594247

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766413C= , CM000681.2:g.45766413C=	GRCh38
NC_000019.9:g.46269671C= , CM000681.1:g.46269671C=	GRCh37
NC_000019.8:g.50961511C=	NCBI36
NG_012745.1:g.7827G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.1546G= MANE Select	ENSP00000316842.4:p.Val516=
ENST00000317578.6:c.1546G=	ENSP00000316842.4:p.Val516=
ENST00000560160.1:c.587-302G=
ENST00000560168.1:c.*734G=	ENSP00000453189.2:n.*734G=
ENST00000622857.1:c.16-451G=	ENSP00000481365.1:n.16-451G=
NM_175875.4:c.1546G=	NP_787071.2:p.Val516=
NM_175875.5:c.1546G= MANE Select	NP_787071.3:p.Val516=