Canonical Allele Identifier: CA1642305

Gene: SIX3

Linked Data

• ClinVar Variation Id: 390197
• ClinVar RCV Id: RCV001698266 ; RCV002522562
• dbSNP Id: rs201451750
• ExAC: 2:45169549 G / A
• gnomAD v2: 2-45169549-G-A
• gnomAD v3: 2-44942410-G-A
• gnomAD v4: 2-44942410-G-A
• MyVariant Identifiers: chr2:g.45169549G>A (hg19) ; chr2:g.44942410G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942410G>A , CM000664.2:g.44942410G>A	GRCh38
NC_000002.11:g.45169549G>A , CM000664.1:g.45169549G>A	GRCh37
NC_000002.10:g.45023053G>A	NCBI36
NG_016222.1:g.5513G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260653.5:c.306G>A MANE Select	ENSP00000260653.3:p.Thr102=
ENST00000260653.4:c.306G>A	ENSP00000260653.3:p.Thr102=
NM_005413.3:c.306G>A	NP_005404.1:p.Thr102=
XM_011533042.1:c.306G>A	XP_011531344.1:p.Thr102=
NM_005413.4:c.306G>A MANE Select	NP_005404.1:p.Thr102=