Canonical Allele Identifier: CA389910203
Gene: SIX1 HGNC NCBI
MIR9718 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115417G>T (hg19) chr14:g.60648699G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648699G>T , CM000676.2:g.60648699G>T GRCh38
NC_000014.8:g.61115417G>T , CM000676.1:g.61115417G>T GRCh37
NC_000014.7:g.60185170G>T NCBI36
NG_008231.1:g.5739C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.491C>A (SIX1) MANE Select ENSP00000494686.1:p.Thr164Asn
ENST00000247182.6:c.491C>A (SIX1) ENSP00000247182.5:p.Thr164Asn
ENST00000553535.2:n.249-2122C>A (SIX1)
ENST00000554986.2:c.42-2122C>A (SIX1) ENSP00000452700.2:n.42-2122C>A
ENST00000555955.3:n.1198-2122C>A (SIX1)
NM_005982.3:c.491C>A (SIX1) NP_005973.1:p.Thr164Asn
XM_017021602.2:c.491C>A (SIX1) XP_016877091.1:p.Thr164Asn
NM_005982.4:c.491C>A (SIX1) MANE Select NP_005973.1:p.Thr164Asn
NR_162089.1:n.52G>T (MIR9718)
Search 100 bp 5'
Search 100 bp 3'