Canonical Allele Identifier: CA229162
Gene: WDR6 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.49013491T>G , CM000665.2:g.49013491T>G GRCh38
NC_000003.11:g.49050924T>G , CM000665.1:g.49050924T>G GRCh37
NC_000003.10:g.49025928T>G NCBI36
NG_029915.1:g.11288T>G
NG_033126.1:g.12581A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000608424.6:c.1957T>G MANE Select ENSP00000477389.1:p.Cys653Gly
ENST00000395474.7:c.2047T>G ENSP00000378857.3:p.Cys683Gly
ENST00000415265.6:c.301T>G ENSP00000412195.2:p.Cys101Gly
ENST00000420783.7:c.*1869T>G ENSP00000395993.3:n.*1869T>G
ENST00000448293.5:c.1804T>G ENSP00000413432.1:p.Cys602Gly
ENST00000452875.5:c.*1964T>G ENSP00000414157.1:n.*1964T>G
ENST00000471162.5:n.1986T>G
ENST00000608424.5:c.1957T>G ENSP00000477389.1:p.Cys653Gly
ENST00000610967.4:c.2047T>G ENSP00000484799.1:p.Cys683Gly
ENST00000615452.1:c.-177-363T>G ENSP00000482289.1:n.-177-363T>G
NM_018031.3:c.2047T>G NP_060501.3:p.Cys683Gly
XM_005264837.3:c.1804T>G XP_005264894.1:p.Cys602Gly
XM_011533314.1:c.1879T>G XP_011531616.1:p.Cys627Gly
XR_940365.1:n.2184T>G
NM_001320546.2:c.1879T>G NP_001307475.1:p.Cys627Gly
NM_001320547.1:c.1804T>G NP_001307476.1:p.Cys602Gly
NM_018031.5:c.1957T>G NP_060501.4:p.Cys653Gly
NM_018031.6:c.1957T>G MANE Select NP_060501.4:p.Cys653Gly
NM_001320546.3:c.1879T>G NP_001307475.1:p.Cys627Gly
NM_001320547.2:c.1804T>G NP_001307476.1:p.Cys602Gly