Canonical Allele Identifier: CA507833806
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1969090491
gnomAD v3: 19-45766975-C-T
gnomAD v4: 19-45766975-C-T
MyVariant Identifiers: chr19:g.46270233C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766975C>T , CM000681.2:g.45766975C>T GRCh38
NC_000019.9:g.46270233C>T , CM000681.1:g.46270233C>T GRCh37
NC_000019.8:g.50962073C>T NCBI36
NG_012745.1:g.7265G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.984G>A MANE Select ENSP00000316842.4:p.Leu328=
ENST00000317578.6:c.984G>A ENSP00000316842.4:p.Leu328=
ENST00000560160.1:c.587-864G>A
ENST00000560168.1:c.*172G>A ENSP00000453189.2:n.*172G>A
ENST00000622857.1:c.16-1013G>A ENSP00000481365.1:n.16-1013G>A
NM_175875.4:c.984G>A NP_787071.2:p.Leu328=
NM_175875.5:c.984G>A MANE Select NP_787071.3:p.Leu328=
Search 100 bp 5'
Search 100 bp 3'