Canonical Allele Identifier: CA389910212
Gene: SIX1 HGNC NCBI
MIR9718 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648705C>A , CM000676.2:g.60648705C>A GRCh38
NC_000014.8:g.61115423C>A , CM000676.1:g.61115423C>A GRCh37
NC_000014.7:g.60185176C>A NCBI36
NG_008231.1:g.5733G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.485G>T (SIX1) MANE Select ENSP00000494686.1:p.Gly162Val
ENST00000247182.6:c.485G>T (SIX1) ENSP00000247182.5:p.Gly162Val
ENST00000553535.2:n.249-2128G>T (SIX1)
ENST00000554986.2:c.42-2128G>T (SIX1) ENSP00000452700.2:n.42-2128G>T
ENST00000555955.3:n.1198-2128G>T (SIX1)
NM_005982.3:c.485G>T (SIX1) NP_005973.1:p.Gly162Val
XM_017021602.2:c.485G>T (SIX1) XP_016877091.1:p.Gly162Val
NM_005982.4:c.485G>T (SIX1) MANE Select NP_005973.1:p.Gly162Val
NR_162089.1:n.58C>A (MIR9718)