Canonical Allele Identifier: CA406418247
Gene: SIX5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45766587G>A , CM000681.2:g.45766587G>A GRCh38
NC_000019.9:g.46269845G>A , CM000681.1:g.46269845G>A GRCh37
NC_000019.8:g.50961685G>A NCBI36
NG_012745.1:g.7653C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.1372C>T MANE Select ENSP00000316842.4:p.Pro458Ser
ENST00000317578.6:c.1372C>T ENSP00000316842.4:p.Pro458Ser
ENST00000560160.1:c.587-476C>T
ENST00000560168.1:c.*560C>T ENSP00000453189.2:n.*560C>T
ENST00000622857.1:c.16-625C>T ENSP00000481365.1:n.16-625C>T
NM_175875.4:c.1372C>T NP_787071.2:p.Pro458Ser
NM_175875.5:c.1372C>T MANE Select NP_787071.3:p.Pro458Ser