Canonical Allele Identifier: CA2140882222
Gene: SIX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649470G= , CM000676.2:g.60649470G= GRCh38
NC_000014.8:g.61116188G= , CM000676.1:g.61116188G= GRCh37
NC_000014.7:g.60185941G= NCBI36
NG_008231.1:g.4968C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-281C= MANE Select ENSP00000494686.1:n.-281C=
ENST00000553535.2:n.248+2465C=
ENST00000554986.2:c.42-2893C= ENSP00000452700.2:n.42-2893C=
ENST00000555955.3:n.1197+2465C=
XM_017021602.2:c.-281C= XP_016877091.1:n.-281C=
NM_005982.4:c.-281C= MANE Select NP_005973.1:n.-281C=
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