Canonical Allele Identifier: CA707374565
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs964613773
gnomAD v4: 14-60649448-C-T
MyVariant Identifiers: chr14:g.61116166C>T (hg19) chr14:g.60649448C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649448C>T , CM000676.2:g.60649448C>T GRCh38
NC_000014.8:g.61116166C>T , CM000676.1:g.61116166C>T GRCh37
NC_000014.7:g.60185919C>T NCBI36
NG_008231.1:g.4990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.-259G>A MANE Select ENSP00000494686.1:n.-259G>A
ENST00000247182.6:c.-259G>A ENSP00000247182.5:n.-259G>A
ENST00000553535.2:n.248+2487G>A
ENST00000554986.2:c.42-2871G>A ENSP00000452700.2:n.42-2871G>A
ENST00000555955.3:n.1197+2487G>A
XM_017021602.2:c.-259G>A XP_016877091.1:n.-259G>A
NM_005982.4:c.-259G>A MANE Select NP_005973.1:n.-259G>A
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