Canonical Allele Identifier: CA360613594

Gene: WDR36

Linked Data

• ClinVar Variation Id: 2613119
• ClinVar RCV Id: RCV004358249
• MyVariant Identifiers: chr5:g.110454788C>T (hg19) ; chr5:g.111119090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.111119090C>T , CM000667.2:g.111119090C>T	GRCh38
NC_000005.9:g.110454788C>T , CM000667.1:g.110454788C>T	GRCh37
NC_000005.8:g.110482687C>T	NCBI36
NG_008979.1:g.31919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513710.4:c.1874C>T MANE Select	ENSP00000424628.3:p.Ser625Phe
ENST00000506538.6:c.2042C>T	ENSP00000423067.2:p.Ser681Phe
ENST00000513710.3:c.1874C>T	ENSP00000424628.3:p.Ser625Phe
ENST00000612402.4:c.2042C>T	ENSP00000479950.1:p.Ser681Phe
NM_139281.2:c.2042C>T	NP_644810.1:p.Ser681Phe
XM_011543163.1:c.2042C>T	XP_011541465.1:p.Ser681Phe
NM_139281.3:c.1874C>T MANE Select	NP_644810.2:p.Ser625Phe