Canonical Allele Identifier: CA9520604
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs778452631
ExAC: 19:46269662 T / A
gnomAD v2: 19-46269662-T-A
gnomAD v3: 19-45766404-T-A
gnomAD v4: 19-45766404-T-A
MyVariant Identifiers: chr19:g.46269662T>A (hg19) chr19:g.45766404T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766404T>A , CM000681.2:g.45766404T>A GRCh38
NC_000019.9:g.46269662T>A , CM000681.1:g.46269662T>A GRCh37
NC_000019.8:g.50961502T>A NCBI36
NG_012745.1:g.7836A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1555A>T MANE Select ENSP00000316842.4:p.Ile519Phe
ENST00000317578.6:c.1555A>T ENSP00000316842.4:p.Ile519Phe
ENST00000560160.1:c.587-293A>T
ENST00000560168.1:c.*743A>T ENSP00000453189.2:n.*743A>T
ENST00000622857.1:c.16-442A>T ENSP00000481365.1:n.16-442A>T
NM_175875.4:c.1555A>T NP_787071.2:p.Ile519Phe
NM_175875.5:c.1555A>T MANE Select NP_787071.3:p.Ile519Phe
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