Canonical Allele Identifier: CA16619881
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420132
ClinVar RCV Id: RCV000482613 RCV003223408
dbSNP Id: rs1064794308
MyVariant Identifiers: chr14:g.61115579C>T (hg19) chr14:g.60648861C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648861C>T , CM000676.2:g.60648861C>T GRCh38
NC_000014.8:g.61115579C>T , CM000676.1:g.61115579C>T GRCh37
NC_000014.7:g.60185332C>T NCBI36
NG_008231.1:g.5577G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.329G>A MANE Select ENSP00000494686.1:p.Arg110Gln
ENST00000247182.6:c.329G>A ENSP00000247182.5:p.Arg110Gln
ENST00000553535.2:n.249-2284G>A
ENST00000554986.2:c.42-2284G>A ENSP00000452700.2:n.42-2284G>A
ENST00000555955.3:n.1198-2284G>A
NM_005982.3:c.329G>A NP_005973.1:p.Arg110Gln
XM_017021602.2:c.329G>A XP_016877091.1:p.Arg110Gln
NM_005982.4:c.329G>A MANE Select NP_005973.1:p.Arg110Gln
Search 100 bp 5'
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