Canonical Allele Identifier: CA406417414
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46269658T>A (hg19) chr19:g.45766400T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766400T>A , CM000681.2:g.45766400T>A GRCh38
NC_000019.9:g.46269658T>A , CM000681.1:g.46269658T>A GRCh37
NC_000019.8:g.50961498T>A NCBI36
NG_012745.1:g.7840A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000317578.7:c.1559A>T MANE Select ENSP00000316842.4:p.Asn520Ile
ENST00000317578.6:c.1559A>T ENSP00000316842.4:p.Asn520Ile
ENST00000560160.1:c.587-289A>T
ENST00000560168.1:c.*747A>T ENSP00000453189.2:n.*747A>T
ENST00000622857.1:c.16-438A>T ENSP00000481365.1:n.16-438A>T
NM_175875.4:c.1559A>T NP_787071.2:p.Asn520Ile
NM_175875.5:c.1559A>T MANE Select NP_787071.3:p.Asn520Ile
Search 100 bp 5'
Search 100 bp 3'