Canonical Allele Identifier: CA2801795237

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60644770T>A , CM000676.2:g.60644770T>A	GRCh38
NC_000014.8:g.61111488T>A , CM000676.1:g.61111488T>A	GRCh37
NC_000014.7:g.60181241T>A	NCBI36
NG_008231.1:g.9668A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1513A>T MANE Select	ENSP00000494686.1:n.*1513A>T
ENST00000247182.6:c.*1513A>T	ENSP00000247182.5:n.*1513A>T
ENST00000554986.2:c.*1513A>T	ENSP00000452700.2:n.*1513A>T
NM_005982.3:c.*1513A>T	NP_005973.1:n.*1513A>T
XM_017021602.2:c.*1787A>T	XP_016877091.1:n.*1787A>T
NM_005982.4:c.*1513A>T MANE Select	NP_005973.1:n.*1513A>T