Canonical Allele Identifier: CA16609007
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 379295
ClinVar RCV Id: RCV000433376
dbSNP Id: rs962337294
gnomAD v2: 19-46269825-C-T
gnomAD v3: 19-45766567-C-T
gnomAD v4: 19-45766567-C-T
MyVariant Identifiers: chr19:g.46269825C>T (hg19) chr19:g.45766567C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766567C>T , CM000681.2:g.45766567C>T GRCh38
NC_000019.9:g.46269825C>T , CM000681.1:g.46269825C>T GRCh37
NC_000019.8:g.50961665C>T NCBI36
NG_012745.1:g.7673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1392G>A MANE Select ENSP00000316842.4:p.Thr464=
ENST00000317578.6:c.1392G>A ENSP00000316842.4:p.Thr464=
ENST00000560160.1:c.587-456G>A
ENST00000560168.1:c.*580G>A ENSP00000453189.2:n.*580G>A
ENST00000622857.1:c.16-605G>A ENSP00000481365.1:n.16-605G>A
NM_175875.4:c.1392G>A NP_787071.2:p.Thr464=
NM_175875.5:c.1392G>A MANE Select NP_787071.3:p.Thr464=
Search 100 bp 5'
Search 100 bp 3'