Canonical Allele Identifier: CA5654299

Gene: PDZD7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101022246C>T , CM000672.2:g.101022246C>T	GRCh38
NC_000010.10:g.102782003C>T , CM000672.1:g.102782003C>T	GRCh37
NC_000010.9:g.102771993C>T	NCBI36
NG_028030.1:g.13912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474125.7:c.*597G>A	ENSP00000474447.1:n.*597G>A
ENST00000619208.6:c.682G>A MANE Select	ENSP00000480489.1:p.Gly228Arg
ENST00000644782.1:c.682G>A	ENSP00000496747.1:p.Gly228Arg
ENST00000645349.1:c.682G>A	ENSP00000495283.1:p.Gly228Arg
ENST00000370215.7:c.682G>A	ENSP00000359234.3:p.Gly228Arg
ENST00000474125.6:c.*597G>A	ENSP00000474447.1:n.*597G>A
ENST00000619208.4:c.682G>A	ENSP00000480489.1:p.Gly228Arg
NM_001195263.1:c.682G>A	NP_001182192.1:p.Gly228Arg
NM_024895.4:c.682G>A	NP_079171.1:p.Gly228Arg
XM_005270165.1:c.682G>A	XP_005270222.1:p.Gly228Arg
XM_011540177.1:c.682G>A	XP_011538479.1:p.Gly228Arg
XM_011540178.1:c.682G>A	XP_011538480.1:p.Gly228Arg
XM_011540179.1:c.682G>A	XP_011538481.1:p.Gly228Arg
XM_011540180.1:c.682G>A	XP_011538482.1:p.Gly228Arg
XM_011540181.1:c.682G>A	XP_011538483.1:p.Gly228Arg
XM_011540182.1:c.682G>A	XP_011538484.1:p.Gly228Arg
XM_011540183.1:c.682G>A	XP_011538485.1:p.Gly228Arg
XR_945815.1:n.930G>A
XR_945816.1:n.930G>A
NM_001351044.1:c.682G>A	NP_001337973.1:p.Gly228Arg
XM_005270165.3:c.682G>A	XP_005270222.1:p.Gly228Arg
XM_011540177.3:c.682G>A	XP_011538479.1:p.Gly228Arg
XM_011540178.3:c.682G>A	XP_011538480.1:p.Gly228Arg
XM_011540179.3:c.682G>A	XP_011538481.1:p.Gly228Arg
XM_011540181.3:c.682G>A	XP_011538483.1:p.Gly228Arg
XM_011540183.3:c.682G>A	XP_011538485.1:p.Gly228Arg
XM_017016667.2:c.682G>A	XP_016872156.1:p.Gly228Arg
XM_017016668.2:c.682G>A	XP_016872157.1:p.Gly228Arg
XR_001747203.2:n.920G>A
XR_945816.3:n.920G>A
NM_001195263.2:c.682G>A MANE Select	NP_001182192.1:p.Gly228Arg
NM_001351044.2:c.682G>A	NP_001337973.1:p.Gly228Arg
NM_024895.5:c.682G>A	NP_079171.1:p.Gly228Arg