Canonical Allele Identifier: CA507961825
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46270095A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766837A>T , CM000681.2:g.45766837A>T GRCh38
NC_000019.9:g.46270095A>T , CM000681.1:g.46270095A>T GRCh37
NC_000019.8:g.50961935A>T NCBI36
NG_012745.1:g.7403T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1122T>A MANE Select ENSP00000316842.4:p.Pro374=
ENST00000317578.6:c.1122T>A ENSP00000316842.4:p.Pro374=
ENST00000560160.1:c.587-726T>A
ENST00000560168.1:c.*310T>A ENSP00000453189.2:n.*310T>A
ENST00000622857.1:c.16-875T>A ENSP00000481365.1:n.16-875T>A
NM_175875.4:c.1122T>A NP_787071.2:p.Pro374=
NM_175875.5:c.1122T>A MANE Select NP_787071.3:p.Pro374=