Canonical Allele Identifier: CA261723973
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs914649957
gnomAD v3: 14-60649585-T-A
gnomAD v4: 14-60649585-T-A
MyVariant Identifiers: chr14:g.61116303T>A (hg19) chr14:g.60649585T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649585T>A , CM000676.2:g.60649585T>A GRCh38
NC_000014.8:g.61116303T>A , CM000676.1:g.61116303T>A GRCh37
NC_000014.7:g.60186056T>A NCBI36
NG_008231.1:g.4853A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2350A>T
ENST00000554986.2:c.42-3008A>T ENSP00000452700.2:n.42-3008A>T
ENST00000555955.3:n.1197+2350A>T
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