Canonical Allele Identifier: CA9520683
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2358997
ClinVar RCV Id: RCV004200718
dbSNP Id: rs753341384
ExAC: 19:46270142 G / T
gnomAD v2: 19-46270142-G-T
gnomAD v3: 19-45766884-G-T
gnomAD v4: 19-45766884-G-T
MyVariant Identifiers: chr19:g.46270142G>T (hg19) chr19:g.45766884G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766884G>T , CM000681.2:g.45766884G>T GRCh38
NC_000019.9:g.46270142G>T , CM000681.1:g.46270142G>T GRCh37
NC_000019.8:g.50961982G>T NCBI36
NG_012745.1:g.7356C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1075C>A MANE Select ENSP00000316842.4:p.Leu359Met
ENST00000317578.6:c.1075C>A ENSP00000316842.4:p.Leu359Met
ENST00000560160.1:c.587-773C>A
ENST00000560168.1:c.*263C>A ENSP00000453189.2:n.*263C>A
ENST00000622857.1:c.16-922C>A ENSP00000481365.1:n.16-922C>A
NM_175875.4:c.1075C>A NP_787071.2:p.Leu359Met
NM_175875.5:c.1075C>A MANE Select NP_787071.3:p.Leu359Met
Search 100 bp 5'
Search 100 bp 3'