Canonical Allele Identifier: CA614369828
Gene: SIX1 HGNC NCBI

Linked Data

dbSNP Id: rs1308539279
gnomAD v2: 14-61116412-A-G
gnomAD v3: 14-60649694-A-G
gnomAD v4: 14-60649694-A-G
MyVariant Identifiers: chr14:g.61116412A>G (hg19) chr14:g.60649694A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649694A>G , CM000676.2:g.60649694A>G GRCh38
NC_000014.8:g.61116412A>G , CM000676.1:g.61116412A>G GRCh37
NC_000014.7:g.60186165A>G NCBI36
NG_008231.1:g.4744T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000553535.2:n.248+2241T>C
ENST00000554986.2:c.42-3117T>C ENSP00000452700.2:n.42-3117T>C
ENST00000555955.3:n.1197+2241T>C
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