Canonical Allele Identifier: CA389911254
Gene: SIX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2026219
ClinVar RCV Id: RCV002871248

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.60649187C>G , CM000676.2:g.60649187C>G GRCh38
NC_000014.8:g.61115905C>G , CM000676.1:g.61115905C>G GRCh37
NC_000014.7:g.60185658C>G NCBI36
NG_008231.1:g.5251G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645694.3:c.3G>C MANE Select ENSP00000494686.1:p.Met1Ile
ENST00000247182.6:c.3G>C ENSP00000247182.5:p.Met1Ile
ENST00000553535.2:n.249-2610G>C
ENST00000554986.2:c.42-2610G>C ENSP00000452700.2:n.42-2610G>C
ENST00000555955.3:n.1198-2610G>C
NM_005982.3:c.3G>C NP_005973.1:p.Met1Ile
XM_017021602.2:c.3G>C XP_016877091.1:p.Met1Ile
NM_005982.4:c.3G>C MANE Select NP_005973.1:p.Met1Ile