Canonical Allele Identifier: CA340801
Gene: SIX5 HGNC NCBI
ClinVar RCV:
RCV000009132
RCV001851753
ClinVar Variation:
8601
COSMIC:
COSM5438285
dbSNP:
80356464
gnomAD v2:
19:46269324 G / A
gnomAD v3:
19:45766066 G / A
gnomAD v4:
chr19-45766066-G-A
Joint Max Group AF 0.00025797 (NFE)
Genomes Max Group AF 0.00028002 (NFE)
Exomes Max Group AF 0.0002504 (NFE)
MyVariant.info:
GRCh38 chr19:g.45766066G>A
GRCh37 chr19:g.46269324G>A
Revel Score:
ENST00000317578 (MANE Select) 0.529
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766066G>A , CM000681.2:g.45766066G>A GRCh38
NC_000019.9:g.46269324G>A , CM000681.1:g.46269324G>A GRCh37
NC_000019.8:g.50961164G>A NCBI36
NG_012745.1:g.8174C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1655C>T MANE Select ENSP00000316842.4:p.Thr552Met
ENST00000317578.6:c.1655C>T ENSP00000316842.4:p.Thr552Met
ENST00000560160.1:c.632C>T
ENST00000560168.1:c.*1081C>T ENSP00000453189.2:n.*1081C>T
ENST00000622857.1:c.16-104C>T ENSP00000481365.1:n.16-104C>T
NM_175875.4:c.1655C>T NP_787071.2:p.Thr552Met
NM_175875.5:c.1655C>T MANE Select NP_787071.3:p.Thr552Met
Search 100 bp 5'
Search 100 bp 3'