Canonical Allele Identifier: CA2625129273
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649506-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649506A>C , CM000676.2:g.60649506A>C GRCh38
NC_000014.8:g.61116224A>C , CM000676.1:g.61116224A>C GRCh37
NC_000014.7:g.60185977A>C NCBI36
NG_008231.1:g.4932T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2429T>G
ENST00000554986.2:c.42-2929T>G ENSP00000452700.2:n.42-2929T>G
ENST00000555955.3:n.1197+2429T>G
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