Canonical Allele Identifier: CA406419426
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766839G>C , CM000681.2:g.45766839G>C GRCh38
NC_000019.9:g.46270097G>C , CM000681.1:g.46270097G>C GRCh37
NC_000019.8:g.50961937G>C NCBI36
NG_012745.1:g.7401C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1120C>G MANE Select ENSP00000316842.4:p.Pro374Ala
ENST00000317578.6:c.1120C>G ENSP00000316842.4:p.Pro374Ala
ENST00000560160.1:c.587-728C>G
ENST00000560168.1:c.*308C>G ENSP00000453189.2:n.*308C>G
ENST00000622857.1:c.16-877C>G ENSP00000481365.1:n.16-877C>G
NM_175875.4:c.1120C>G NP_787071.2:p.Pro374Ala
NM_175875.5:c.1120C>G MANE Select NP_787071.3:p.Pro374Ala