Canonical Allele Identifier: CA406417760
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766472A>T , CM000681.2:g.45766472A>T GRCh38
NC_000019.9:g.46269730A>T , CM000681.1:g.46269730A>T GRCh37
NC_000019.8:g.50961570A>T NCBI36
NG_012745.1:g.7768T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1487T>A MANE Select ENSP00000316842.4:p.Leu496Gln
ENST00000317578.6:c.1487T>A ENSP00000316842.4:p.Leu496Gln
ENST00000560160.1:c.587-361T>A
ENST00000560168.1:c.*675T>A ENSP00000453189.2:n.*675T>A
ENST00000622857.1:c.16-510T>A ENSP00000481365.1:n.16-510T>A
NM_175875.4:c.1487T>A NP_787071.2:p.Leu496Gln
NM_175875.5:c.1487T>A MANE Select NP_787071.3:p.Leu496Gln