Canonical Allele Identifier: CA707374448
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1268229692
gnomAD v4: 14-60649357-A-G
MyVariant Identifiers: chr14:g.61116075A>G (hg19) chr14:g.60649357A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649357A>G , CM000676.2:g.60649357A>G GRCh38
NC_000014.8:g.61116075A>G , CM000676.1:g.61116075A>G GRCh37
NC_000014.7:g.60185828A>G NCBI36
NG_008231.1:g.5081T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.-168T>C MANE Select ENSP00000494686.1:n.-168T>C
ENST00000247182.6:c.-168T>C ENSP00000247182.5:n.-168T>C
ENST00000553535.2:n.248+2578T>C
ENST00000554986.2:c.42-2780T>C ENSP00000452700.2:n.42-2780T>C
ENST00000555955.3:n.1197+2578T>C
NM_005982.3:c.-168T>C NP_005973.1:n.-168T>C
XM_017021602.2:c.-168T>C XP_016877091.1:n.-168T>C
NM_005982.4:c.-168T>C MANE Select NP_005973.1:n.-168T>C
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