Canonical Allele Identifier: CA9520708
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3162587
ClinVar RCV Id: RCV004455986
dbSNP Id: rs747399994
ExAC: 19:46270261 G / A
gnomAD v2: 19-46270261-G-A
gnomAD v3: 19-45767003-G-A
gnomAD v4: 19-45767003-G-A
MyVariant Identifiers: chr19:g.46270261G>A (hg19) chr19:g.45767003G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767003G>A , CM000681.2:g.45767003G>A GRCh38
NC_000019.9:g.46270261G>A , CM000681.1:g.46270261G>A GRCh37
NC_000019.8:g.50962101G>A NCBI36
NG_012745.1:g.7237C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.956C>T MANE Select ENSP00000316842.4:p.Ser319Phe
ENST00000317578.6:c.956C>T ENSP00000316842.4:p.Ser319Phe
ENST00000560160.1:c.587-892C>T
ENST00000560168.1:c.*144C>T ENSP00000453189.2:n.*144C>T
ENST00000622857.1:c.16-1041C>T ENSP00000481365.1:n.16-1041C>T
NM_175875.4:c.956C>T NP_787071.2:p.Ser319Phe
NM_175875.5:c.956C>T MANE Select NP_787071.3:p.Ser319Phe
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