Canonical Allele Identifier: CA507833931
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46270323G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767065G>T , CM000681.2:g.45767065G>T GRCh38
NC_000019.9:g.46270323G>T , CM000681.1:g.46270323G>T GRCh37
NC_000019.8:g.50962163G>T NCBI36
NG_012745.1:g.7175C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.894C>A MANE Select ENSP00000316842.4:p.Ala298=
ENST00000317578.6:c.894C>A ENSP00000316842.4:p.Ala298=
ENST00000560160.1:c.587-954C>A
ENST00000560168.1:c.*82C>A ENSP00000453189.2:n.*82C>A
ENST00000622857.1:c.16-1103C>A ENSP00000481365.1:n.16-1103C>A
NM_175875.4:c.894C>A NP_787071.2:p.Ala298=
NM_175875.5:c.894C>A MANE Select NP_787071.3:p.Ala298=