Canonical Allele Identifier: CA229173

Gene: WDR44

Linked Data

• ClinVar Variation Id: 100873
• ClinVar RCV Id: RCV000087235
• dbSNP Id: rs483352750
• MyVariant Identifiers: chrX:g.117566843C>T (hg19) ; chrX:g.118432880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.118432880C>T , CM000685.2:g.118432880C>T	GRCh38
NC_000023.10:g.117566843C>T , CM000685.1:g.117566843C>T	GRCh37
NC_000023.9:g.117450871C>T	NCBI36
NG_021368.1:g.91808C>T
NG_021368.2:g.91808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254029.8:c.1837C>T MANE Select	ENSP00000254029.3:p.Leu613Phe
ENST00000254029.7:c.1837C>T	ENSP00000254029.3:p.Leu613Phe
ENST00000371822.9:c.1762C>T	ENSP00000360887.5:p.Leu588Phe
ENST00000371825.7:c.1837C>T	ENSP00000360890.3:p.Leu613Phe
ENST00000371848.3:c.1535C>T
NM_001184965.1:c.1837C>T	NP_001171894.1:p.Leu613Phe
NM_001184966.1:c.1762C>T	NP_001171895.1:p.Leu588Phe
NM_019045.4:c.1837C>T	NP_061918.3:p.Leu613Phe
XM_011531353.1:c.1762C>T	XP_011529655.1:p.Leu588Phe
XM_011531353.3:c.1762C>T	XP_011529655.1:p.Leu588Phe
XM_017029600.2:c.967C>T	XP_016885089.1:p.Leu323Phe
NM_019045.5:c.1837C>T MANE Select	NP_061918.3:p.Leu613Phe
NM_001184965.2:c.1837C>T	NP_001171894.1:p.Leu613Phe