Canonical Allele Identifier: CA2581175690
Gene: SIX1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644787G>C , CM000676.2:g.60644787G>C GRCh38
NC_000014.8:g.61111505G>C , CM000676.1:g.61111505G>C GRCh37
NC_000014.7:g.60181258G>C NCBI36
NG_008231.1:g.9651C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1496C>G MANE Select ENSP00000494686.1:n.*1496C>G
ENST00000247182.6:c.*1496C>G ENSP00000247182.5:n.*1496C>G
ENST00000554986.2:c.*1496C>G ENSP00000452700.2:n.*1496C>G
NM_005982.3:c.*1496C>G NP_005973.1:n.*1496C>G
XM_017021602.2:c.*1770C>G XP_016877091.1:n.*1770C>G
NM_005982.4:c.*1496C>G MANE Select NP_005973.1:n.*1496C>G
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