Canonical Allele Identifier: CA1642285
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1902608
ClinVar RCV Id: RCV002580415
dbSNP Id: rs778060809
ExAC: 2:45169439 G / A
gnomAD v2: 2-45169439-G-A
gnomAD v3: 2-44942300-G-A
gnomAD v4: 2-44942300-G-A
MyVariant Identifiers: chr2:g.45169439G>A (hg19) chr2:g.44942300G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942300G>A , CM000664.2:g.44942300G>A GRCh38
NC_000002.11:g.45169439G>A , CM000664.1:g.45169439G>A GRCh37
NC_000002.10:g.45022943G>A NCBI36
NG_016222.1:g.5403G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.196G>A MANE Select ENSP00000260653.3:p.Gly66Ser
ENST00000260653.4:c.196G>A ENSP00000260653.3:p.Gly66Ser
NM_005413.3:c.196G>A NP_005404.1:p.Gly66Ser
XM_011533042.1:c.196G>A XP_011531344.1:p.Gly66Ser
NM_005413.4:c.196G>A MANE Select NP_005404.1:p.Gly66Ser
Search 100 bp 5'
Search 100 bp 3'