Canonical Allele Identifier: CA9520631
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2489661
ClinVar RCV Id: RCV004277950
dbSNP Id: rs763277893
ExAC: 19:46269839 G / C
gnomAD v2: 19-46269839-G-C
gnomAD v3: 19-45766581-G-C
gnomAD v4: 19-45766581-G-C
MyVariant Identifiers: chr19:g.46269839G>C (hg19) chr19:g.45766581G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766581G>C , CM000681.2:g.45766581G>C GRCh38
NC_000019.9:g.46269839G>C , CM000681.1:g.46269839G>C GRCh37
NC_000019.8:g.50961679G>C NCBI36
NG_012745.1:g.7659C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1378C>G MANE Select ENSP00000316842.4:p.Pro460Ala
ENST00000317578.6:c.1378C>G ENSP00000316842.4:p.Pro460Ala
ENST00000560160.1:c.587-470C>G
ENST00000560168.1:c.*566C>G ENSP00000453189.2:n.*566C>G
ENST00000622857.1:c.16-619C>G ENSP00000481365.1:n.16-619C>G
NM_175875.4:c.1378C>G NP_787071.2:p.Pro460Ala
NM_175875.5:c.1378C>G MANE Select NP_787071.3:p.Pro460Ala
Search 100 bp 5'
Search 100 bp 3'