Canonical Allele Identifier: CA359529329
Community Standard Title: NM_018034.4(WDR70):c.243G>C (p.Glu81Asp)
Gene: WDR70 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.37392067G>C , CM000667.2:g.37392067G>C GRCh38
NC_000005.9:g.37392169G>C , CM000667.1:g.37392169G>C GRCh37
NC_000005.8:g.37427926G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_018034.4:c.243G>C MANE Select NP_060504.1:p.Glu81Asp
ENST00000265107.9:c.243G>C MANE Select ENSP00000265107.4:p.Glu81Asp
NM_001345998.1:c.240G>C NP_001332927.1:p.Glu80Asp
NM_001345998.2:c.240G>C NP_001332927.1:p.Glu80Asp
NM_001345999.1:c.177G>C NP_001332928.1:p.Glu59Asp
NM_001345999.2:c.177G>C NP_001332928.1:p.Glu59Asp
NM_018034.2:c.243G>C NP_060504.1:p.Glu81Asp
NM_018034.3:c.243G>C NP_060504.1:p.Glu81Asp
ENST00000265107.8:c.243G>C ENSP00000265107.4:p.Glu81Asp
ENST00000504564.1:c.243G>C ENSP00000425841.1:p.Glu81Asp
ENST00000511906.5:n.257G>C
XM_005248318.2:c.240G>C XP_005248375.1:p.Glu80Asp