Canonical Allele Identifier: CA406420877
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1049684
ClinVar RCV Id: RCV001356116 RCV002476629
dbSNP Id: rs1444936221
gnomAD v2: 19-46270272-G-C
gnomAD v3: 19-45767014-G-C
gnomAD v4: 19-45767014-G-C
MyVariant Identifiers: chr19:g.46270272G>C (hg19) chr19:g.45767014G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767014G>C , CM000681.2:g.45767014G>C GRCh38
NC_000019.9:g.46270272G>C , CM000681.1:g.46270272G>C GRCh37
NC_000019.8:g.50962112G>C NCBI36
NG_012745.1:g.7226C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.945C>G MANE Select ENSP00000316842.4:p.Cys315Trp
ENST00000317578.6:c.945C>G ENSP00000316842.4:p.Cys315Trp
ENST00000560160.1:c.587-903C>G
ENST00000560168.1:c.*133C>G ENSP00000453189.2:n.*133C>G
ENST00000622857.1:c.16-1052C>G ENSP00000481365.1:n.16-1052C>G
NM_175875.4:c.945C>G NP_787071.2:p.Cys315Trp
NM_175875.5:c.945C>G MANE Select NP_787071.3:p.Cys315Trp
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