Canonical Allele Identifier: CA9520704
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs750846602
ExAC: 19:46270245 G / T
gnomAD v2: 19-46270245-G-T
gnomAD v4: 19-45766987-G-T
MyVariant Identifiers: chr19:g.46270245G>T (hg19) chr19:g.45766987G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766987G>T , CM000681.2:g.45766987G>T GRCh38
NC_000019.9:g.46270245G>T , CM000681.1:g.46270245G>T GRCh37
NC_000019.8:g.50962085G>T NCBI36
NG_012745.1:g.7253C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.972C>A MANE Select ENSP00000316842.4:p.Asn324Lys
ENST00000317578.6:c.972C>A ENSP00000316842.4:p.Asn324Lys
ENST00000560160.1:c.587-876C>A
ENST00000560168.1:c.*160C>A ENSP00000453189.2:n.*160C>A
ENST00000622857.1:c.16-1025C>A ENSP00000481365.1:n.16-1025C>A
NM_175875.4:c.972C>A NP_787071.2:p.Asn324Lys
NM_175875.5:c.972C>A MANE Select NP_787071.3:p.Asn324Lys
Search 100 bp 5'
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