Canonical Allele Identifier: CA115073
Gene: WDR36 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.111106140G>A
GRCh37 chr5:g.110441839G>A
Revel Score:
ENST00000506538 0.257
ENST00000513710 (MANE Select) 0.257
ENST00000505303 0.257
gnomAD v2:
5:110441839 G / A
gnomAD v3:
5:111106140 G / A
gnomAD v4:
chr5-111106140-G-A
Joint Max Group AF 0.03860845 (SAS)
Genomes Max Group AF 0.03737445 (SAS)
Exomes Max Group AF 0.03844537 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.111106140G>A , CM000667.2:g.111106140G>A GRCh38
NC_000005.9:g.110441839G>A , CM000667.1:g.110441839G>A GRCh37
NC_000005.8:g.110469738G>A NCBI36
NG_008979.1:g.18970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000513710.4:c.1177G>A MANE Select ENSP00000424628.3:p.Ala393Thr
ENST00000505303.5:n.1313G>A
ENST00000506538.6:c.1345G>A ENSP00000423067.2:p.Ala449Thr
ENST00000513710.3:c.1177G>A ENSP00000424628.3:p.Ala393Thr
ENST00000612402.4:c.1345G>A ENSP00000479950.1:p.Ala449Thr
NM_139281.2:c.1345G>A NP_644810.1:p.Ala449Thr
XM_011543163.1:c.1345G>A XP_011541465.1:p.Ala449Thr
NM_139281.3:c.1177G>A MANE Select NP_644810.2:p.Ala393Thr
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