Canonical Allele Identifier: CA406419352
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3008773
ClinVar RCV Id: RCV003861900
dbSNP Id: rs2146206981
gnomAD v4: 19-45766824-C-T
MyVariant Identifiers: chr19:g.46270082C>T (hg19) chr19:g.45766824C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766824C>T , CM000681.2:g.45766824C>T GRCh38
NC_000019.9:g.46270082C>T , CM000681.1:g.46270082C>T GRCh37
NC_000019.8:g.50961922C>T NCBI36
NG_012745.1:g.7416G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1135G>A MANE Select ENSP00000316842.4:p.Glu379Lys
ENST00000317578.6:c.1135G>A ENSP00000316842.4:p.Glu379Lys
ENST00000560160.1:c.587-713G>A
ENST00000560168.1:c.*323G>A ENSP00000453189.2:n.*323G>A
ENST00000622857.1:c.16-862G>A ENSP00000481365.1:n.16-862G>A
NM_175875.4:c.1135G>A NP_787071.2:p.Glu379Lys
NM_175875.5:c.1135G>A MANE Select NP_787071.3:p.Glu379Lys
Search 100 bp 5'
Search 100 bp 3'