Canonical Allele Identifier: CA406420802
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs1281197645
gnomAD v3: 19-45766997-A-T
gnomAD v4: 19-45766997-A-T
MyVariant Identifiers: chr19:g.46270255A>T (hg19) chr19:g.45766997A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766997A>T , CM000681.2:g.45766997A>T GRCh38
NC_000019.9:g.46270255A>T , CM000681.1:g.46270255A>T GRCh37
NC_000019.8:g.50962095A>T NCBI36
NG_012745.1:g.7243T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.962T>A MANE Select ENSP00000316842.4:p.Ile321Asn
ENST00000317578.6:c.962T>A ENSP00000316842.4:p.Ile321Asn
ENST00000560160.1:c.587-886T>A
ENST00000560168.1:c.*150T>A ENSP00000453189.2:n.*150T>A
ENST00000622857.1:c.16-1035T>A ENSP00000481365.1:n.16-1035T>A
NM_175875.4:c.962T>A NP_787071.2:p.Ile321Asn
NM_175875.5:c.962T>A MANE Select NP_787071.3:p.Ile321Asn
Search 100 bp 5'
Search 100 bp 3'