Canonical Allele Identifier: CA2140879399
Gene: SIX1 HGNC NCBI
MIR9718 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648701G= , CM000676.2:g.60648701G= GRCh38
NC_000014.8:g.61115419G= , CM000676.1:g.61115419G= GRCh37
NC_000014.7:g.60185172G= NCBI36
NG_008231.1:g.5737C=

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.489C= (SIX1) MANE Select ENSP00000494686.1:p.Leu163=
ENST00000247182.6:c.489C= (SIX1) ENSP00000247182.5:p.Leu163=
ENST00000553535.2:n.249-2124C= (SIX1)
ENST00000554986.2:c.42-2124C= (SIX1) ENSP00000452700.2:n.42-2124C=
ENST00000555955.3:n.1198-2124C= (SIX1)
NM_005982.3:c.489C= (SIX1) NP_005973.1:p.Leu163=
XM_017021602.2:c.489C= (SIX1) XP_016877091.1:p.Leu163=
NM_005982.4:c.489C= (SIX1) MANE Select NP_005973.1:p.Leu163=
NR_162089.1:n.54G= (MIR9718)