Canonical Allele Identifier: CA2338594243

Gene: SIX5

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.45766408G= , CM000681.2:g.45766408G=	GRCh38
NC_000019.9:g.46269666G= , CM000681.1:g.46269666G=	GRCh37
NC_000019.8:g.50961506G=	NCBI36
NG_012745.1:g.7832C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000317578.7:c.1551C= MANE Select	ENSP00000316842.4:p.His517=
ENST00000317578.6:c.1551C=	ENSP00000316842.4:p.His517=
ENST00000560160.1:c.587-297C=
ENST00000560168.1:c.*739C=	ENSP00000453189.2:n.*739C=
ENST00000622857.1:c.16-446C=	ENSP00000481365.1:n.16-446C=
NM_175875.4:c.1551C=	NP_787071.2:p.His517=
NM_175875.5:c.1551C= MANE Select	NP_787071.3:p.His517=