Canonical Allele Identifier: CA1642313

Gene: SIX3

Linked Data

• ClinVar Variation Id: 284060
• ClinVar RCV Id: RCV000273668 ; RCV001078601
• dbSNP Id: rs200331042
• ExAC: 2:45169612 G / A
• gnomAD v2: 2-45169612-G-A
• gnomAD v3: 2-44942473-G-A
• gnomAD v4: 2-44942473-G-A
• MyVariant Identifiers: chr2:g.45169612G>A (hg19) ; chr2:g.44942473G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942473G>A , CM000664.2:g.44942473G>A	GRCh38
NC_000002.11:g.45169612G>A , CM000664.1:g.45169612G>A	GRCh37
NC_000002.10:g.45023116G>A	NCBI36
NG_016222.1:g.5576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260653.5:c.369G>A MANE Select	ENSP00000260653.3:p.Glu123=
ENST00000260653.4:c.369G>A	ENSP00000260653.3:p.Glu123=
NM_005413.3:c.369G>A	NP_005404.1:p.Glu123=
XM_011533042.1:c.369G>A	XP_011531344.1:p.Glu123=
NM_005413.4:c.369G>A MANE Select	NP_005404.1:p.Glu123=