Canonical Allele Identifier: CA614369818
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs868842228
gnomAD v2: 14-61116317-G-T
gnomAD v3: 14-60649599-G-T
gnomAD v4: 14-60649599-G-T
MyVariant Identifiers: chr14:g.61116317G>T (hg19) chr14:g.60649599G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649599G>T , CM000676.2:g.60649599G>T GRCh38
NC_000014.8:g.61116317G>T , CM000676.1:g.61116317G>T GRCh37
NC_000014.7:g.60186070G>T NCBI36
NG_008231.1:g.4839C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2336C>A
ENST00000554986.2:c.42-3022C>A ENSP00000452700.2:n.42-3022C>A
ENST00000555955.3:n.1197+2336C>A
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