Canonical Allele Identifier: CA378224823

Gene: PDZD7

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101010643T>G , CM000672.2:g.101010643T>G	GRCh38
NC_000010.10:g.102770400T>G , CM000672.1:g.102770400T>G	GRCh37
NC_000010.9:g.102760390T>G	NCBI36
NG_028030.1:g.25515A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001195263.2:c.2246A>C MANE Select	NP_001182192.1:p.Asn749Thr
ENST00000619208.6:c.2246A>C MANE Select	ENSP00000480489.1:p.Asn749Thr
NM_001195263.1:c.2246A>C	NP_001182192.1:p.Asn749Thr
ENST00000474125.6:c.*2193A>C	ENSP00000474447.1:n.*2193A>C
ENST00000474125.7:c.*2193A>C	ENSP00000474447.1:n.*2193A>C
ENST00000619208.4:c.2246A>C	ENSP00000480489.1:p.Asn749Thr
XM_011540177.1:c.2246A>C	XP_011538479.1:p.Asn749Thr
XM_011540177.3:c.2246A>C	XP_011538479.1:p.Asn749Thr
XM_011540178.1:c.2243A>C	XP_011538480.1:p.Asn748Thr
XM_011540178.3:c.2243A>C	XP_011538480.1:p.Asn748Thr