Canonical Allele Identifier: CA2338594620

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45767042A= , CM000681.2:g.45767042A=	GRCh38
NC_000019.9:g.46270300A= , CM000681.1:g.46270300A=	GRCh37
NC_000019.8:g.50962140A=	NCBI36
NG_012745.1:g.7198T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317578.7:c.917T= MANE Select	ENSP00000316842.4:p.Leu306=
ENST00000317578.6:c.917T=	ENSP00000316842.4:p.Leu306=
ENST00000560160.1:c.587-931T=
ENST00000560168.1:c.*105T=	ENSP00000453189.2:n.*105T=
ENST00000622857.1:c.16-1080T=	ENSP00000481365.1:n.16-1080T=
NM_175875.4:c.917T=	NP_787071.2:p.Leu306=
NM_175875.5:c.917T= MANE Select	NP_787071.3:p.Leu306=