Canonical Allele Identifier: CA2539292231

Gene: SIX1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.60645035T>C , CM000676.2:g.60645035T>C	GRCh38
NC_000014.8:g.61111753T>C , CM000676.1:g.61111753T>C	GRCh37
NC_000014.7:g.60181506T>C	NCBI36
NG_008231.1:g.9403A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645694.3:c.*1248A>G MANE Select	ENSP00000494686.1:n.*1248A>G
ENST00000247182.6:c.*1248A>G	ENSP00000247182.5:n.*1248A>G
ENST00000554986.2:c.*1248A>G	ENSP00000452700.2:n.*1248A>G
ENST00000555955.3:n.2740A>G
NM_005982.3:c.*1248A>G	NP_005973.1:n.*1248A>G
XM_017021602.2:c.*1522A>G	XP_016877091.1:n.*1522A>G
NM_005982.4:c.*1248A>G MANE Select	NP_005973.1:n.*1248A>G