Canonical Allele Identifier: CA2140879245

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648631T= , CM000676.2:g.60648631T=	GRCh38
NC_000014.8:g.61115349T= , CM000676.1:g.61115349T=	GRCh37
NC_000014.7:g.60185102T=	NCBI36
NG_008231.1:g.5807A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000645694.3:c.559A= MANE Select	ENSP00000494686.1:p.Arg187=
ENST00000247182.6:c.559A=	ENSP00000247182.5:p.Arg187=
ENST00000553535.2:n.249-2054A=
ENST00000554986.2:c.42-2054A=	ENSP00000452700.2:n.42-2054A=
ENST00000555955.3:n.1198-2054A=
NM_005982.3:c.559A=	NP_005973.1:p.Arg187=
XM_017021602.2:c.501+58A=	XP_016877091.1:n.501+58A=
NM_005982.4:c.559A= MANE Select	NP_005973.1:p.Arg187=