Canonical Allele Identifier: CA10606212

Gene: SIX3

Linked Data

• ClinVar Variation Id: 288767
• ClinVar RCV Id: RCV000269190 ; RCV002518053
• dbSNP Id: rs886044000
• gnomAD v3: 2-44942717-G-C
• gnomAD v4: 2-44942717-G-C
• MyVariant Identifiers: chr2:g.45169856G>C (hg19) ; chr2:g.44942717G>C (hg38)
• PubMed: PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.44942717G>C , CM000664.2:g.44942717G>C	GRCh38
NC_000002.11:g.45169856G>C , CM000664.1:g.45169856G>C	GRCh37
NC_000002.10:g.45023360G>C	NCBI36
NG_016222.1:g.5820G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260653.5:c.613G>C MANE Select	ENSP00000260653.3:p.Asp205His
ENST00000260653.4:c.613G>C	ENSP00000260653.3:p.Asp205His
NM_005413.3:c.613G>C	NP_005404.1:p.Asp205His
XM_011533042.1:c.613G>C	XP_011531344.1:p.Asp205His
NM_005413.4:c.613G>C MANE Select	NP_005404.1:p.Asp205His