Canonical Allele Identifier: CA2625128190
Gene: SIX1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644687G>T , CM000676.2:g.60644687G>T GRCh38
NC_000014.8:g.61111405G>T , CM000676.1:g.61111405G>T GRCh37
NC_000014.7:g.60181158G>T NCBI36
NG_008231.1:g.9751C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1596C>A MANE Select ENSP00000494686.1:n.*1596C>A
ENST00000247182.6:c.*1596C>A ENSP00000247182.5:n.*1596C>A
NM_005982.4:c.*1596C>A MANE Select NP_005973.1:n.*1596C>A