Canonical Allele Identifier: CA486955546
Gene: SIX1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.61115356G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60648638G>T , CM000676.2:g.60648638G>T GRCh38
NC_000014.8:g.61115356G>T , CM000676.1:g.61115356G>T GRCh37
NC_000014.7:g.60185109G>T NCBI36
NG_008231.1:g.5800C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000645694.3:c.552C>A MANE Select ENSP00000494686.1:p.Ala184=
ENST00000247182.6:c.552C>A ENSP00000247182.5:p.Ala184=
ENST00000553535.2:n.249-2061C>A
ENST00000554986.2:c.42-2061C>A ENSP00000452700.2:n.42-2061C>A
ENST00000555955.3:n.1198-2061C>A
NM_005982.3:c.552C>A NP_005973.1:p.Ala184=
XM_017021602.2:c.501+51C>A XP_016877091.1:n.501+51C>A
NM_005982.4:c.552C>A MANE Select NP_005973.1:p.Ala184=
Search 100 bp 5'
Search 100 bp 3'