Canonical Allele Identifier: CA2839613261

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60648579G>A , CM000676.2:g.60648579G>A	GRCh38
NC_000014.8:g.61115297G>A , CM000676.1:g.61115297G>A	GRCh37
NC_000014.7:g.60185050G>A	NCBI36
NG_008231.1:g.5859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.560+51C>T MANE Select	ENSP00000494686.1:n.560+51C>T
ENST00000247182.6:c.560+51C>T	ENSP00000247182.5:n.560+51C>T
ENST00000553535.2:n.249-2002C>T
ENST00000554986.2:c.42-2002C>T	ENSP00000452700.2:n.42-2002C>T
ENST00000555955.3:n.1198-2002C>T
NM_005982.3:c.560+51C>T	NP_005973.1:n.560+51C>T
XM_017021602.2:c.501+110C>T	XP_016877091.1:n.501+110C>T
NM_005982.4:c.560+51C>T MANE Select	NP_005973.1:n.560+51C>T