Canonical Allele Identifier: CA2140882119
Gene: SIX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649436C= , CM000676.2:g.60649436C= GRCh38
NC_000014.8:g.61116154C= , CM000676.1:g.61116154C= GRCh37
NC_000014.7:g.60185907C= NCBI36
NG_008231.1:g.5002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-247G= MANE Select ENSP00000494686.1:n.-247G=
ENST00000247182.6:c.-247G= ENSP00000247182.5:n.-247G=
ENST00000553535.2:n.248+2499G=
ENST00000554986.2:c.42-2859G= ENSP00000452700.2:n.42-2859G=
ENST00000555955.3:n.1197+2499G=
NM_005982.3:c.-247G= NP_005973.1:n.-247G=
XM_017021602.2:c.-247G= XP_016877091.1:n.-247G=
NM_005982.4:c.-247G= MANE Select NP_005973.1:n.-247G=