Canonical Allele Identifier: CA507833822
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1424883097
MyVariant Identifiers: chr19:g.46270242C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766984C>T , CM000681.2:g.45766984C>T GRCh38
NC_000019.9:g.46270242C>T , CM000681.1:g.46270242C>T GRCh37
NC_000019.8:g.50962082C>T NCBI36
NG_012745.1:g.7256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.975G>A MANE Select ENSP00000316842.4:p.Gly325=
ENST00000317578.6:c.975G>A ENSP00000316842.4:p.Gly325=
ENST00000560160.1:c.587-873G>A
ENST00000560168.1:c.*163G>A ENSP00000453189.2:n.*163G>A
ENST00000622857.1:c.16-1022G>A ENSP00000481365.1:n.16-1022G>A
NM_175875.4:c.975G>A NP_787071.2:p.Gly325=
NM_175875.5:c.975G>A MANE Select NP_787071.3:p.Gly325=