Canonical Allele Identifier: CA261723947
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs557778108
gnomAD v2: 14-61116279-T-C
gnomAD v3: 14-60649561-T-C
gnomAD v4: 14-60649561-T-C
MyVariant Identifiers: chr14:g.61116279T>C (hg19) chr14:g.60649561T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649561T>C , CM000676.2:g.60649561T>C GRCh38
NC_000014.8:g.61116279T>C , CM000676.1:g.61116279T>C GRCh37
NC_000014.7:g.60186032T>C NCBI36
NG_008231.1:g.4877A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2374A>G
ENST00000554986.2:c.42-2984A>G ENSP00000452700.2:n.42-2984A>G
ENST00000555955.3:n.1197+2374A>G
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