Canonical Allele Identifier: CA1642247
Gene: SIX3 HGNC NCBI

Linked Data

ClinVar Variation Id: 2887093
ClinVar RCV Id: RCV003617148
dbSNP Id: rs370774455
ExAC: 2:45169303 C / A
gnomAD v2: 2-45169303-C-A
gnomAD v4: 2-44942164-C-A
MyVariant Identifiers: chr2:g.45169303C>A (hg19) chr2:g.44942164C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44942164C>A , CM000664.2:g.44942164C>A GRCh38
NC_000002.11:g.45169303C>A , CM000664.1:g.45169303C>A GRCh37
NC_000002.10:g.45022807C>A NCBI36
NG_016222.1:g.5267C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260653.5:c.60C>A MANE Select ENSP00000260653.3:p.Ala20=
ENST00000260653.4:c.60C>A ENSP00000260653.3:p.Ala20=
NM_005413.3:c.60C>A NP_005404.1:p.Ala20=
XM_011533042.1:c.60C>A XP_011531344.1:p.Ala20=
NM_005413.4:c.60C>A MANE Select NP_005404.1:p.Ala20=
Search 100 bp 5'
Search 100 bp 3'