Canonical Allele Identifier: CA309000891
Gene: SIX5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2414314
ClinVar RCV Id: RCV003106647
dbSNP Id: rs903976524

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766617C>G , CM000681.2:g.45766617C>G GRCh38
NC_000019.9:g.46269875C>G , CM000681.1:g.46269875C>G GRCh37
NC_000019.8:g.50961715C>G NCBI36
NG_012745.1:g.7623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1342G>C MANE Select ENSP00000316842.4:p.Val448Leu
ENST00000317578.6:c.1342G>C ENSP00000316842.4:p.Val448Leu
ENST00000560160.1:c.587-506G>C
ENST00000560168.1:c.*530G>C ENSP00000453189.2:n.*530G>C
ENST00000622857.1:c.16-655G>C ENSP00000481365.1:n.16-655G>C
NM_175875.4:c.1342G>C NP_787071.2:p.Val448Leu
NM_175875.5:c.1342G>C MANE Select NP_787071.3:p.Val448Leu