Canonical Allele Identifier: CA406417873
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 3007361
ClinVar RCV Id: RCV003869000
dbSNP Id: rs1969077004
MyVariant Identifiers: chr19:g.46269752G>A (hg19) chr19:g.45766494G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766494G>A , CM000681.2:g.45766494G>A GRCh38
NC_000019.9:g.46269752G>A , CM000681.1:g.46269752G>A GRCh37
NC_000019.8:g.50961592G>A NCBI36
NG_012745.1:g.7746C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1465C>T MANE Select ENSP00000316842.4:p.Gln489Ter
ENST00000317578.6:c.1465C>T ENSP00000316842.4:p.Gln489Ter
ENST00000560160.1:c.587-383C>T
ENST00000560168.1:c.*653C>T ENSP00000453189.2:n.*653C>T
ENST00000622857.1:c.16-532C>T ENSP00000481365.1:n.16-532C>T
NM_175875.4:c.1465C>T NP_787071.2:p.Gln489Ter
NM_175875.5:c.1465C>T MANE Select NP_787071.3:p.Gln489Ter
Search 100 bp 5'
Search 100 bp 3'