Canonical Allele Identifier: CA129166

Gene: SIX3

Linked Data

• ClinVar Variation Id: 30381
• ClinVar RCV Id: RCV000023330 ; RCV000023331 ; RCV000171135 ; RCV000173372 ; RCV000713302 ; RCV003934849
• dbSNP Id: rs199823175
• ExAC: 2:45169352 G / T
• gnomAD v2: 2-45169352-G-T
• gnomAD v3: 2-44942213-G-T
• gnomAD v4: 2-44942213-G-T
• MyVariant Identifiers: chr2:g.45169352G>T (hg19) ; chr2:g.44942213G>T (hg38)
• PubMed: PMID:23891399 ; PMID:26080100

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942213G>T , CM000664.2:g.44942213G>T	GRCh38
NC_000002.11:g.45169352G>T , CM000664.1:g.45169352G>T	GRCh37
NC_000002.10:g.45022856G>T	NCBI36
NG_016222.1:g.5316G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260653.5:c.109G>T MANE Select	ENSP00000260653.3:p.Gly37Cys
ENST00000260653.4:c.109G>T	ENSP00000260653.3:p.Gly37Cys
NM_005413.3:c.109G>T	NP_005404.1:p.Gly37Cys
XM_011533042.1:c.109G>T	XP_011531344.1:p.Gly37Cys
NM_005413.4:c.109G>T MANE Select	NP_005404.1:p.Gly37Cys