Canonical Allele Identifier: CA9520629
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1318272
ClinVar RCV Id: RCV001753047
dbSNP Id: rs569568887
ExAC: 19:46269837 C / T
gnomAD v2: 19-46269837-C-T
gnomAD v3: 19-45766579-C-T
gnomAD v4: 19-45766579-C-T
MyVariant Identifiers: chr19:g.46269837C>T (hg19) chr19:g.45766579C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766579C>T , CM000681.2:g.45766579C>T GRCh38
NC_000019.9:g.46269837C>T , CM000681.1:g.46269837C>T GRCh37
NC_000019.8:g.50961677C>T NCBI36
NG_012745.1:g.7661G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1380G>A MANE Select ENSP00000316842.4:p.Pro460=
ENST00000317578.6:c.1380G>A ENSP00000316842.4:p.Pro460=
ENST00000560160.1:c.587-468G>A
ENST00000560168.1:c.*568G>A ENSP00000453189.2:n.*568G>A
ENST00000622857.1:c.16-617G>A ENSP00000481365.1:n.16-617G>A
NM_175875.4:c.1380G>A NP_787071.2:p.Pro460=
NM_175875.5:c.1380G>A MANE Select NP_787071.3:p.Pro460=
Search 100 bp 5'
Search 100 bp 3'