Canonical Allele Identifier: CA9520613
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs750626973
ExAC: 19:46269712 C / T
gnomAD v2: 19-46269712-C-T
gnomAD v4: 19-45766454-C-T
MyVariant Identifiers: chr19:g.46269712C>T (hg19) chr19:g.45766454C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766454C>T , CM000681.2:g.45766454C>T GRCh38
NC_000019.9:g.46269712C>T , CM000681.1:g.46269712C>T GRCh37
NC_000019.8:g.50961552C>T NCBI36
NG_012745.1:g.7786G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1505G>A MANE Select ENSP00000316842.4:p.Gly502Asp
ENST00000317578.6:c.1505G>A ENSP00000316842.4:p.Gly502Asp
ENST00000560160.1:c.587-343G>A
ENST00000560168.1:c.*693G>A ENSP00000453189.2:n.*693G>A
ENST00000622857.1:c.16-492G>A ENSP00000481365.1:n.16-492G>A
NM_175875.4:c.1505G>A NP_787071.2:p.Gly502Asp
NM_175875.5:c.1505G>A MANE Select NP_787071.3:p.Gly502Asp
Search 100 bp 5'
Search 100 bp 3'