Canonical Allele Identifier: CA406419284
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46270070A>T (hg19) chr19:g.45766812A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766812A>T , CM000681.2:g.45766812A>T GRCh38
NC_000019.9:g.46270070A>T , CM000681.1:g.46270070A>T GRCh37
NC_000019.8:g.50961910A>T NCBI36
NG_012745.1:g.7428T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1147T>A MANE Select ENSP00000316842.4:p.Ser383Thr
ENST00000317578.6:c.1147T>A ENSP00000316842.4:p.Ser383Thr
ENST00000560160.1:c.587-701T>A
ENST00000560168.1:c.*335T>A ENSP00000453189.2:n.*335T>A
ENST00000622857.1:c.16-850T>A ENSP00000481365.1:n.16-850T>A
NM_175875.4:c.1147T>A NP_787071.2:p.Ser383Thr
NM_175875.5:c.1147T>A MANE Select NP_787071.3:p.Ser383Thr
Search 100 bp 5'
Search 100 bp 3'