Canonical Allele Identifier: CA406419831
Gene: SIX5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.46270184T>A (hg19) chr19:g.45766926T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766926T>A , CM000681.2:g.45766926T>A GRCh38
NC_000019.9:g.46270184T>A , CM000681.1:g.46270184T>A GRCh37
NC_000019.8:g.50962024T>A NCBI36
NG_012745.1:g.7314A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1033A>T MANE Select ENSP00000316842.4:p.Ile345Phe
ENST00000317578.6:c.1033A>T ENSP00000316842.4:p.Ile345Phe
ENST00000560160.1:c.587-815A>T
ENST00000560168.1:c.*221A>T ENSP00000453189.2:n.*221A>T
ENST00000622857.1:c.16-964A>T ENSP00000481365.1:n.16-964A>T
NM_175875.4:c.1033A>T NP_787071.2:p.Ile345Phe
NM_175875.5:c.1033A>T MANE Select NP_787071.3:p.Ile345Phe
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