Canonical Allele Identifier: CA406417564
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v3: 19-45766431-C-T
gnomAD v4: 19-45766431-C-T
MyVariant Identifiers: chr19:g.46269689C>T (hg19) chr19:g.45766431C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766431C>T , CM000681.2:g.45766431C>T GRCh38
NC_000019.9:g.46269689C>T , CM000681.1:g.46269689C>T GRCh37
NC_000019.8:g.50961529C>T NCBI36
NG_012745.1:g.7809G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1528G>A MANE Select ENSP00000316842.4:p.Ala510Thr
ENST00000317578.6:c.1528G>A ENSP00000316842.4:p.Ala510Thr
ENST00000560160.1:c.587-320G>A
ENST00000560168.1:c.*716G>A ENSP00000453189.2:n.*716G>A
ENST00000622857.1:c.16-469G>A ENSP00000481365.1:n.16-469G>A
NM_175875.4:c.1528G>A NP_787071.2:p.Ala510Thr
NM_175875.5:c.1528G>A MANE Select NP_787071.3:p.Ala510Thr
Search 100 bp 5'
Search 100 bp 3'