Canonical Allele Identifier: CA406420709
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1969090607
gnomAD v4: 19-45766979-A-C
MyVariant Identifiers: chr19:g.46270237A>C (hg19) chr19:g.45766979A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766979A>C , CM000681.2:g.45766979A>C GRCh38
NC_000019.9:g.46270237A>C , CM000681.1:g.46270237A>C GRCh37
NC_000019.8:g.50962077A>C NCBI36
NG_012745.1:g.7261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.980T>G MANE Select ENSP00000316842.4:p.Phe327Cys
ENST00000317578.6:c.980T>G ENSP00000316842.4:p.Phe327Cys
ENST00000560160.1:c.587-868T>G
ENST00000560168.1:c.*168T>G ENSP00000453189.2:n.*168T>G
ENST00000622857.1:c.16-1017T>G ENSP00000481365.1:n.16-1017T>G
NM_175875.4:c.980T>G NP_787071.2:p.Phe327Cys
NM_175875.5:c.980T>G MANE Select NP_787071.3:p.Phe327Cys
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