Canonical Allele Identifier: CA389910211
Gene: SIX1 HGNC NCBI
MIR9718 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115421G>T (hg19) chr14:g.60648703G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648703G>T , CM000676.2:g.60648703G>T GRCh38
NC_000014.8:g.61115421G>T , CM000676.1:g.61115421G>T GRCh37
NC_000014.7:g.60185174G>T NCBI36
NG_008231.1:g.5735C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.487C>A (SIX1) MANE Select ENSP00000494686.1:p.Leu163Ile
ENST00000247182.6:c.487C>A (SIX1) ENSP00000247182.5:p.Leu163Ile
ENST00000553535.2:n.249-2126C>A (SIX1)
ENST00000554986.2:c.42-2126C>A (SIX1) ENSP00000452700.2:n.42-2126C>A
ENST00000555955.3:n.1198-2126C>A (SIX1)
NM_005982.3:c.487C>A (SIX1) NP_005973.1:p.Leu163Ile
XM_017021602.2:c.487C>A (SIX1) XP_016877091.1:p.Leu163Ile
NM_005982.4:c.487C>A (SIX1) MANE Select NP_005973.1:p.Leu163Ile
NR_162089.1:n.56G>T (MIR9718)
Search 100 bp 5'
Search 100 bp 3'