Canonical Allele Identifier: CA406417566
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1438686564
gnomAD v2: 19-46269691-G-A
gnomAD v4: 19-45766433-G-A
MyVariant Identifiers: chr19:g.46269691G>A (hg19) chr19:g.45766433G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766433G>A , CM000681.2:g.45766433G>A GRCh38
NC_000019.9:g.46269691G>A , CM000681.1:g.46269691G>A GRCh37
NC_000019.8:g.50961531G>A NCBI36
NG_012745.1:g.7807C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1526C>T MANE Select ENSP00000316842.4:p.Ala509Val
ENST00000317578.6:c.1526C>T ENSP00000316842.4:p.Ala509Val
ENST00000560160.1:c.587-322C>T
ENST00000560168.1:c.*714C>T ENSP00000453189.2:n.*714C>T
ENST00000622857.1:c.16-471C>T ENSP00000481365.1:n.16-471C>T
NM_175875.4:c.1526C>T NP_787071.2:p.Ala509Val
NM_175875.5:c.1526C>T MANE Select NP_787071.3:p.Ala509Val
Search 100 bp 5'
Search 100 bp 3'