Canonical Allele Identifier: CA261724104
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs764723337
gnomAD v2: 14-61116408-G-A
gnomAD v3: 14-60649690-G-A
gnomAD v4: 14-60649690-G-A
MyVariant Identifiers: chr14:g.61116408G>A (hg19) chr14:g.60649690G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649690G>A , CM000676.2:g.60649690G>A GRCh38
NC_000014.8:g.61116408G>A , CM000676.1:g.61116408G>A GRCh37
NC_000014.7:g.60186161G>A NCBI36
NG_008231.1:g.4748C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2245C>T
ENST00000554986.2:c.42-3113C>T ENSP00000452700.2:n.42-3113C>T
ENST00000555955.3:n.1197+2245C>T
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