Canonical Allele Identifier: CA2140879903
Community Standard Title: NM_005982.4(SIX1):c.386A= (p.Tyr129=)
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648804T= , CM000676.2:g.60648804T= GRCh38
NC_000014.8:g.61115522T= , CM000676.1:g.61115522T= GRCh37
NC_000014.7:g.60185275T= NCBI36
NG_008231.1:g.5634A=

Transcript Alleles

HGVS Amino-acid Change
NM_005982.4:c.386A= MANE Select NP_005973.1:p.Tyr129=
ENST00000645694.3:c.386A= MANE Select ENSP00000494686.1:p.Tyr129=
NM_005982.3:c.386A= NP_005973.1:p.Tyr129=
ENST00000247182.6:c.386A= ENSP00000247182.5:p.Tyr129=
ENST00000553535.2:n.249-2227A=
ENST00000554986.2:c.42-2227A= ENSP00000452700.2:n.42-2227A=
ENST00000555955.3:n.1198-2227A=
XM_017021602.2:c.386A= XP_016877091.1:p.Tyr129=