Canonical Allele Identifier: CA486955567
Gene: SIX1 HGNC NCBI
MIR9718 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115404G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648686G>A , CM000676.2:g.60648686G>A GRCh38
NC_000014.8:g.61115404G>A , CM000676.1:g.61115404G>A GRCh37
NC_000014.7:g.60185157G>A NCBI36
NG_008231.1:g.5752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.504C>T (SIX1) MANE Select ENSP00000494686.1:p.Val168=
ENST00000247182.6:c.504C>T (SIX1) ENSP00000247182.5:p.Val168=
ENST00000553535.2:n.249-2109C>T (SIX1)
ENST00000554986.2:c.42-2109C>T (SIX1) ENSP00000452700.2:n.42-2109C>T
ENST00000555955.3:n.1198-2109C>T (SIX1)
NM_005982.3:c.504C>T (SIX1) NP_005973.1:p.Val168=
XM_017021602.2:c.501+3C>T (SIX1) XP_016877091.1:n.501+3C>T
NM_005982.4:c.504C>T (SIX1) MANE Select NP_005973.1:p.Val168=
NR_162089.1:n.39G>A (MIR9718)
Search 100 bp 5'
Search 100 bp 3'