Canonical Allele Identifier: CA2338594628
Gene: SIX5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767057T= , CM000681.2:g.45767057T= GRCh38
NC_000019.9:g.46270315T= , CM000681.1:g.46270315T= GRCh37
NC_000019.8:g.50962155T= NCBI36
NG_012745.1:g.7183A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.902A= MANE Select ENSP00000316842.4:p.Gln301=
ENST00000317578.6:c.902A= ENSP00000316842.4:p.Gln301=
ENST00000560160.1:c.587-946A=
ENST00000560168.1:c.*90A= ENSP00000453189.2:n.*90A=
ENST00000622857.1:c.16-1095A= ENSP00000481365.1:n.16-1095A=
NM_175875.4:c.902A= NP_787071.2:p.Gln301=
NM_175875.5:c.902A= MANE Select NP_787071.3:p.Gln301=