Canonical Allele Identifier: CA507833927
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46270320A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767062A>T , CM000681.2:g.45767062A>T GRCh38
NC_000019.9:g.46270320A>T , CM000681.1:g.46270320A>T GRCh37
NC_000019.8:g.50962160A>T NCBI36
NG_012745.1:g.7178T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.897T>A MANE Select ENSP00000316842.4:p.Ala299=
ENST00000317578.6:c.897T>A ENSP00000316842.4:p.Ala299=
ENST00000560160.1:c.587-951T>A
ENST00000560168.1:c.*85T>A ENSP00000453189.2:n.*85T>A
ENST00000622857.1:c.16-1100T>A ENSP00000481365.1:n.16-1100T>A
NM_175875.4:c.897T>A NP_787071.2:p.Ala299=
NM_175875.5:c.897T>A MANE Select NP_787071.3:p.Ala299=
Search 100 bp 5'
Search 100 bp 3'