Canonical Allele Identifier: CA2338594240

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766402G= , CM000681.2:g.45766402G=	GRCh38
NC_000019.9:g.46269660G= , CM000681.1:g.46269660G=	GRCh37
NC_000019.8:g.50961500G=	NCBI36
NG_012745.1:g.7838C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000317578.7:c.1557C= MANE Select	ENSP00000316842.4:p.Ile519=
ENST00000317578.6:c.1557C=	ENSP00000316842.4:p.Ile519=
ENST00000560160.1:c.587-291C=
ENST00000560168.1:c.*745C=	ENSP00000453189.2:n.*745C=
ENST00000622857.1:c.16-440C=	ENSP00000481365.1:n.16-440C=
NM_175875.4:c.1557C=	NP_787071.2:p.Ile519=
NM_175875.5:c.1557C= MANE Select	NP_787071.3:p.Ile519=