Canonical Allele Identifier: CA9520727
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs781585152
ExAC: 19:46270300 A / G
gnomAD v2: 19-46270300-A-G
gnomAD v4: 19-45767042-A-G
COSMIC: COSM4726242
MyVariant Identifiers: chr19:g.46270300A>G (hg19) chr19:g.45767042A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767042A>G , CM000681.2:g.45767042A>G GRCh38
NC_000019.9:g.46270300A>G , CM000681.1:g.46270300A>G GRCh37
NC_000019.8:g.50962140A>G NCBI36
NG_012745.1:g.7198T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.917T>C MANE Select ENSP00000316842.4:p.Leu306Pro
ENST00000317578.6:c.917T>C ENSP00000316842.4:p.Leu306Pro
ENST00000560160.1:c.587-931T>C
ENST00000560168.1:c.*105T>C ENSP00000453189.2:n.*105T>C
ENST00000622857.1:c.16-1080T>C ENSP00000481365.1:n.16-1080T>C
NM_175875.4:c.917T>C NP_787071.2:p.Leu306Pro
NM_175875.5:c.917T>C MANE Select NP_787071.3:p.Leu306Pro
Search 100 bp 5'
Search 100 bp 3'