Canonical Allele Identifier: CA9520728
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 730320
ClinVar RCV Id: RCV000905109 RCV002495474
dbSNP Id: rs370303254
ExAC: 19:46270302 G / A
gnomAD v2: 19-46270302-G-A
gnomAD v3: 19-45767044-G-A
gnomAD v4: 19-45767044-G-A
MyVariant Identifiers: chr19:g.46270302G>A (hg19) chr19:g.45767044G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767044G>A , CM000681.2:g.45767044G>A GRCh38
NC_000019.9:g.46270302G>A , CM000681.1:g.46270302G>A GRCh37
NC_000019.8:g.50962142G>A NCBI36
NG_012745.1:g.7196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.915C>T MANE Select ENSP00000316842.4:p.Phe305=
ENST00000317578.6:c.915C>T ENSP00000316842.4:p.Phe305=
ENST00000560160.1:c.587-933C>T
ENST00000560168.1:c.*103C>T ENSP00000453189.2:n.*103C>T
ENST00000622857.1:c.16-1082C>T ENSP00000481365.1:n.16-1082C>T
NM_175875.4:c.915C>T NP_787071.2:p.Phe305=
NM_175875.5:c.915C>T MANE Select NP_787071.3:p.Phe305=
Search 100 bp 5'
Search 100 bp 3'