Canonical Allele Identifier: CA2338594621

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767043G= , CM000681.2:g.45767043G=	GRCh38
NC_000019.9:g.46270301G= , CM000681.1:g.46270301G=	GRCh37
NC_000019.8:g.50962141G=	NCBI36
NG_012745.1:g.7197C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.916C= MANE Select	ENSP00000316842.4:p.Leu306=
ENST00000317578.6:c.916C=	ENSP00000316842.4:p.Leu306=
ENST00000560160.1:c.587-932C=
ENST00000560168.1:c.*104C=	ENSP00000453189.2:n.*104C=
ENST00000622857.1:c.16-1081C=	ENSP00000481365.1:n.16-1081C=
NM_175875.4:c.916C=	NP_787071.2:p.Leu306=
NM_175875.5:c.916C= MANE Select	NP_787071.3:p.Leu306=