Canonical Allele Identifier: CA378223429

Gene: PDZD7

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101008823C>G , CM000672.2:g.101008823C>G	GRCh38
NC_000010.10:g.102768580C>G , CM000672.1:g.102768580C>G	GRCh37
NC_000010.9:g.102758570C>G	NCBI36
NG_028030.1:g.27335G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001195263.2:c.2746G>C MANE Select	NP_001182192.1:p.Gly916Arg
ENST00000619208.6:c.2746G>C MANE Select	ENSP00000480489.1:p.Gly916Arg
NM_001195263.1:c.2746G>C	NP_001182192.1:p.Gly916Arg
ENST00000474125.6:c.*2693G>C	ENSP00000474447.1:n.*2693G>C
ENST00000474125.7:c.*2693G>C	ENSP00000474447.1:n.*2693G>C
ENST00000619208.4:c.2746G>C	ENSP00000480489.1:p.Gly916Arg
XM_011540177.1:c.2746G>C	XP_011538479.1:p.Gly916Arg
XM_011540177.3:c.2746G>C	XP_011538479.1:p.Gly916Arg
XM_011540178.1:c.2743G>C	XP_011538480.1:p.Gly915Arg
XM_011540178.3:c.2743G>C	XP_011538480.1:p.Gly915Arg