Canonical Allele Identifier: CA406417513
Gene: SIX5 HGNC NCBI

Linked Data

gnomAD v4: 19-45766421-G-T
MyVariant Identifiers: chr19:g.46269679G>T (hg19) chr19:g.45766421G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766421G>T , CM000681.2:g.45766421G>T GRCh38
NC_000019.9:g.46269679G>T , CM000681.1:g.46269679G>T GRCh37
NC_000019.8:g.50961519G>T NCBI36
NG_012745.1:g.7819C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1538C>A MANE Select ENSP00000316842.4:p.Pro513His
ENST00000317578.6:c.1538C>A ENSP00000316842.4:p.Pro513His
ENST00000560160.1:c.587-310C>A
ENST00000560168.1:c.*726C>A ENSP00000453189.2:n.*726C>A
ENST00000622857.1:c.16-459C>A ENSP00000481365.1:n.16-459C>A
NM_175875.4:c.1538C>A NP_787071.2:p.Pro513His
NM_175875.5:c.1538C>A MANE Select NP_787071.3:p.Pro513His
Search 100 bp 5'
Search 100 bp 3'