Canonical Allele Identifier: CA2625129291
Gene: SIX1 HGNC NCBI

Linked Data

gnomAD v4: 14-60649518-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649518T>G , CM000676.2:g.60649518T>G GRCh38
NC_000014.8:g.61116236T>G , CM000676.1:g.61116236T>G GRCh37
NC_000014.7:g.60185989T>G NCBI36
NG_008231.1:g.4920A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2417A>C
ENST00000554986.2:c.42-2941A>C ENSP00000452700.2:n.42-2941A>C
ENST00000555955.3:n.1197+2417A>C
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