Canonical Allele Identifier: CA261724131
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs73309465
gnomAD v2: 14-61116435-G-A
gnomAD v3: 14-60649717-G-A
gnomAD v4: 14-60649717-G-A
MyVariant Identifiers: chr14:g.61116435G>A (hg19) chr14:g.60649717G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649717G>A , CM000676.2:g.60649717G>A GRCh38
NC_000014.8:g.61116435G>A , CM000676.1:g.61116435G>A GRCh37
NC_000014.7:g.60186188G>A NCBI36
NG_008231.1:g.4721C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2218C>T
ENST00000554986.2:c.42-3140C>T ENSP00000452700.2:n.42-3140C>T
ENST00000555955.3:n.1197+2218C>T
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