Canonical Allele Identifier: CA406421067
Gene: SIX5 HGNC NCBI

Linked Data

dbSNP Id: rs2146207288

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.45767054C>A , CM000681.2:g.45767054C>A GRCh38
NC_000019.9:g.46270312C>A , CM000681.1:g.46270312C>A GRCh37
NC_000019.8:g.50962152C>A NCBI36
NG_012745.1:g.7186G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000317578.7:c.905G>T MANE Select ENSP00000316842.4:p.Gly302Val
ENST00000317578.6:c.905G>T ENSP00000316842.4:p.Gly302Val
ENST00000560160.1:c.587-943G>T
ENST00000560168.1:c.*93G>T ENSP00000453189.2:n.*93G>T
ENST00000622857.1:c.16-1092G>T ENSP00000481365.1:n.16-1092G>T
NM_175875.4:c.905G>T NP_787071.2:p.Gly302Val
NM_175875.5:c.905G>T MANE Select NP_787071.3:p.Gly302Val