Canonical Allele Identifier: CA406421030
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1262285218
gnomAD v2: 19-46270303-A-T
gnomAD v4: 19-45767045-A-T
MyVariant Identifiers: chr19:g.46270303A>T (hg19) chr19:g.45767045A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767045A>T , CM000681.2:g.45767045A>T GRCh38
NC_000019.9:g.46270303A>T , CM000681.1:g.46270303A>T GRCh37
NC_000019.8:g.50962143A>T NCBI36
NG_012745.1:g.7195T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.914T>A MANE Select ENSP00000316842.4:p.Phe305Tyr
ENST00000317578.6:c.914T>A ENSP00000316842.4:p.Phe305Tyr
ENST00000560160.1:c.587-934T>A
ENST00000560168.1:c.*102T>A ENSP00000453189.2:n.*102T>A
ENST00000622857.1:c.16-1083T>A ENSP00000481365.1:n.16-1083T>A
NM_175875.4:c.914T>A NP_787071.2:p.Phe305Tyr
NM_175875.5:c.914T>A MANE Select NP_787071.3:p.Phe305Tyr
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