Canonical Allele Identifier: CA507833791
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766969-G-T
MyVariant Identifiers: chr19:g.46270227G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766969G>T , CM000681.2:g.45766969G>T GRCh38
NC_000019.9:g.46270227G>T , CM000681.1:g.46270227G>T GRCh37
NC_000019.8:g.50962067G>T NCBI36
NG_012745.1:g.7271C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.990C>A MANE Select ENSP00000316842.4:p.Ala330=
ENST00000317578.6:c.990C>A ENSP00000316842.4:p.Ala330=
ENST00000560160.1:c.587-858C>A
ENST00000560168.1:c.*178C>A ENSP00000453189.2:n.*178C>A
ENST00000622857.1:c.16-1007C>A ENSP00000481365.1:n.16-1007C>A
NM_175875.4:c.990C>A NP_787071.2:p.Ala330=
NM_175875.5:c.990C>A MANE Select NP_787071.3:p.Ala330=
Search 100 bp 5'
Search 100 bp 3'