Canonical Allele Identifier: CA8611545
Gene: PLCD3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.45132298G>T , CM000679.2:g.45132298G>T GRCh38
NC_000017.10:g.43209665G>T , CM000679.1:g.43209665G>T GRCh37
NC_000017.9:g.40565191G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619929.5:c.113C>A MANE Select ENSP00000479636.1:p.Pro38His
ENST00000538093.1:c.-30+780C>A ENSP00000440378.1:n.-30+780C>A
ENST00000544446.1:n.221C>A
ENST00000590644.5:c.94+953C>A ENSP00000467800.1:n.94+953C>A
ENST00000619929.4:c.113C>A ENSP00000479636.1:p.Pro38His
NM_133373.4:c.113C>A NP_588614.1:p.Pro38His
XM_011524253.1:c.113C>A XP_011522555.1:p.Pro38His
XM_011524253.3:c.113C>A XP_011522555.1:p.Pro38His
XM_024450554.1:c.113C>A XP_024306322.1:p.Pro38His
NM_133373.5:c.113C>A MANE Select NP_588614.1:p.Pro38His