Canonical Allele Identifier: CA406419597
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766877A>C , CM000681.2:g.45766877A>C GRCh38
NC_000019.9:g.46270135A>C , CM000681.1:g.46270135A>C GRCh37
NC_000019.8:g.50961975A>C NCBI36
NG_012745.1:g.7363T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1082T>G MANE Select ENSP00000316842.4:p.Leu361Arg
ENST00000317578.6:c.1082T>G ENSP00000316842.4:p.Leu361Arg
ENST00000560160.1:c.587-766T>G
ENST00000560168.1:c.*270T>G ENSP00000453189.2:n.*270T>G
ENST00000622857.1:c.16-915T>G ENSP00000481365.1:n.16-915T>G
NM_175875.4:c.1082T>G NP_787071.2:p.Leu361Arg
NM_175875.5:c.1082T>G MANE Select NP_787071.3:p.Leu361Arg