Canonical Allele Identifier: CA486955542
Gene: SIX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115349T>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648631T>G , CM000676.2:g.60648631T>G GRCh38
NC_000014.8:g.61115349T>G , CM000676.1:g.61115349T>G GRCh37
NC_000014.7:g.60185102T>G NCBI36
NG_008231.1:g.5807A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.559A>C MANE Select ENSP00000494686.1:p.Arg187=
ENST00000247182.6:c.559A>C ENSP00000247182.5:p.Arg187=
ENST00000553535.2:n.249-2054A>C
ENST00000554986.2:c.42-2054A>C ENSP00000452700.2:n.42-2054A>C
ENST00000555955.3:n.1198-2054A>C
NM_005982.3:c.559A>C NP_005973.1:p.Arg187=
XM_017021602.2:c.501+58A>C XP_016877091.1:n.501+58A>C
NM_005982.4:c.559A>C MANE Select NP_005973.1:p.Arg187=
Search 100 bp 5'
Search 100 bp 3'