Canonical Allele Identifier: CA707412290
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1214318211
gnomAD v3: 14-60644764-A-G
gnomAD v4: 14-60644764-A-G
MyVariant Identifiers: chr14:g.61111482A>G (hg19) chr14:g.60644764A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60644764A>G , CM000676.2:g.60644764A>G GRCh38
NC_000014.8:g.61111482A>G , CM000676.1:g.61111482A>G GRCh37
NC_000014.7:g.60181235A>G NCBI36
NG_008231.1:g.9674T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.*1519T>C MANE Select ENSP00000494686.1:n.*1519T>C
ENST00000247182.6:c.*1519T>C ENSP00000247182.5:n.*1519T>C
ENST00000554986.2:c.*1519T>C ENSP00000452700.2:n.*1519T>C
NM_005982.3:c.*1519T>C NP_005973.1:n.*1519T>C
XM_017021602.2:c.*1793T>C XP_016877091.1:n.*1793T>C
NM_005982.4:c.*1519T>C MANE Select NP_005973.1:n.*1519T>C
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