Canonical Allele Identifier: CA486955577
Gene: SIX1 HGNC NCBI
MIR9718 HGNC NCBI

Linked Data

dbSNP Id: rs1428140971
gnomAD v2: 14-61115416-G-A
gnomAD v3: 14-60648698-G-A
gnomAD v4: 14-60648698-G-A
MyVariant Identifiers: chr14:g.61115416G>A (hg19) chr14:g.60648698G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648698G>A , CM000676.2:g.60648698G>A GRCh38
NC_000014.8:g.61115416G>A , CM000676.1:g.61115416G>A GRCh37
NC_000014.7:g.60185169G>A NCBI36
NG_008231.1:g.5740C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.492C>T (SIX1) MANE Select ENSP00000494686.1:p.Thr164=
ENST00000247182.6:c.492C>T (SIX1) ENSP00000247182.5:p.Thr164=
ENST00000553535.2:n.249-2121C>T (SIX1)
ENST00000554986.2:c.42-2121C>T (SIX1) ENSP00000452700.2:n.42-2121C>T
ENST00000555955.3:n.1198-2121C>T (SIX1)
NM_005982.3:c.492C>T (SIX1) NP_005973.1:p.Thr164=
XM_017021602.2:c.492C>T (SIX1) XP_016877091.1:p.Thr164=
NM_005982.4:c.492C>T (SIX1) MANE Select NP_005973.1:p.Thr164=
NR_162089.1:n.51G>A (MIR9718)
Search 100 bp 5'
Search 100 bp 3'