Canonical Allele Identifier: CA507833905
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1315235526
gnomAD v2: 19-46270293-C-T
gnomAD v4: 19-45767035-C-T
MyVariant Identifiers: chr19:g.46270293C>T (hg19) chr19:g.45767035C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767035C>T , CM000681.2:g.45767035C>T GRCh38
NC_000019.9:g.46270293C>T , CM000681.1:g.46270293C>T GRCh37
NC_000019.8:g.50962133C>T NCBI36
NG_012745.1:g.7205G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.924G>A MANE Select ENSP00000316842.4:p.Gly308=
ENST00000317578.6:c.924G>A ENSP00000316842.4:p.Gly308=
ENST00000560160.1:c.587-924G>A
ENST00000560168.1:c.*112G>A ENSP00000453189.2:n.*112G>A
ENST00000622857.1:c.16-1073G>A ENSP00000481365.1:n.16-1073G>A
NM_175875.4:c.924G>A NP_787071.2:p.Gly308=
NM_175875.5:c.924G>A MANE Select NP_787071.3:p.Gly308=
Search 100 bp 5'
Search 100 bp 3'