Canonical Allele Identifier: CA2338594613

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767029G= , CM000681.2:g.45767029G=	GRCh38
NC_000019.9:g.46270287G= , CM000681.1:g.46270287G=	GRCh37
NC_000019.8:g.50962127G=	NCBI36
NG_012745.1:g.7211C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.930C= MANE Select	ENSP00000316842.4:p.Gly310=
ENST00000317578.6:c.930C=	ENSP00000316842.4:p.Gly310=
ENST00000560160.1:c.587-918C=
ENST00000560168.1:c.*118C=	ENSP00000453189.2:n.*118C=
ENST00000622857.1:c.16-1067C=	ENSP00000481365.1:n.16-1067C=
NM_175875.4:c.930C=	NP_787071.2:p.Gly310=
NM_175875.5:c.930C= MANE Select	NP_787071.3:p.Gly310=