Canonical Allele Identifier: CA9520622
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1602681
ClinVar RCV Id: RCV002130045
dbSNP Id: rs368646606
ExAC: 19:46269768 C / G
gnomAD v2: 19-46269768-C-G
gnomAD v3: 19-45766510-C-G
gnomAD v4: 19-45766510-C-G
MyVariant Identifiers: chr19:g.46269768C>G (hg19) chr19:g.45766510C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766510C>G , CM000681.2:g.45766510C>G GRCh38
NC_000019.9:g.46269768C>G , CM000681.1:g.46269768C>G GRCh37
NC_000019.8:g.50961608C>G NCBI36
NG_012745.1:g.7730G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1449G>C MANE Select ENSP00000316842.4:p.Gln483His
ENST00000317578.6:c.1449G>C ENSP00000316842.4:p.Gln483His
ENST00000560160.1:c.587-399G>C
ENST00000560168.1:c.*637G>C ENSP00000453189.2:n.*637G>C
ENST00000622857.1:c.16-548G>C ENSP00000481365.1:n.16-548G>C
NM_175875.4:c.1449G>C NP_787071.2:p.Gln483His
NM_175875.5:c.1449G>C MANE Select NP_787071.3:p.Gln483His
Search 100 bp 5'
Search 100 bp 3'