Canonical Allele Identifier: CA261723858
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs945490097
gnomAD v3: 14-60649489-T-C
gnomAD v4: 14-60649489-T-C
MyVariant Identifiers: chr14:g.61116207T>C (hg19) chr14:g.60649489T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649489T>C , CM000676.2:g.60649489T>C GRCh38
NC_000014.8:g.61116207T>C , CM000676.1:g.61116207T>C GRCh37
NC_000014.7:g.60185960T>C NCBI36
NG_008231.1:g.4949A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2446A>G
ENST00000554986.2:c.42-2912A>G ENSP00000452700.2:n.42-2912A>G
ENST00000555955.3:n.1197+2446A>G
XM_017021602.2:c.-300A>G XP_016877091.1:n.-300A>G
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