Canonical Allele Identifier: CA507833929
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 738315
ClinVar RCV Id: RCV000914187
dbSNP Id: rs1405821307
gnomAD v2: 19-46270323-G-A
gnomAD v3: 19-45767065-G-A
gnomAD v4: 19-45767065-G-A
MyVariant Identifiers: chr19:g.46270323G>A (hg19) chr19:g.45767065G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767065G>A , CM000681.2:g.45767065G>A GRCh38
NC_000019.9:g.46270323G>A , CM000681.1:g.46270323G>A GRCh37
NC_000019.8:g.50962163G>A NCBI36
NG_012745.1:g.7175C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.894C>T MANE Select ENSP00000316842.4:p.Ala298=
ENST00000317578.6:c.894C>T ENSP00000316842.4:p.Ala298=
ENST00000560160.1:c.587-954C>T
ENST00000560168.1:c.*82C>T ENSP00000453189.2:n.*82C>T
ENST00000622857.1:c.16-1103C>T ENSP00000481365.1:n.16-1103C>T
NM_175875.4:c.894C>T NP_787071.2:p.Ala298=
NM_175875.5:c.894C>T MANE Select NP_787071.3:p.Ala298=
Search 100 bp 5'
Search 100 bp 3'