Canonical Allele Identifier: CA133631
Gene: PDZD7 HGNC NCBI

Linked Data

ClinVar Variation Id: 44127
ClinVar RCV Id: RCV000037103 RCV000712520
dbSNP Id: rs111287837
ExAC: 10:102770278 T / C
gnomAD v2: 10-102770278-T-C
gnomAD v3: 10-101010521-T-C
gnomAD v4: 10-101010521-T-C
MyVariant Identifiers: chr10:g.102770278T>C (hg19) chr10:g.101010521T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101010521T>C , CM000672.2:g.101010521T>C GRCh38
NC_000010.10:g.102770278T>C , CM000672.1:g.102770278T>C GRCh37
NC_000010.9:g.102760268T>C NCBI36
NG_028030.1:g.25637A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474125.7:c.*2315A>G ENSP00000474447.1:n.*2315A>G
ENST00000619208.6:c.2368A>G MANE Select ENSP00000480489.1:p.Lys790Glu
ENST00000474125.6:c.*2315A>G ENSP00000474447.1:n.*2315A>G
ENST00000619208.4:c.2368A>G ENSP00000480489.1:p.Lys790Glu
NM_001195263.1:c.2368A>G NP_001182192.1:p.Lys790Glu
XM_011540177.1:c.2368A>G XP_011538479.1:p.Lys790Glu
XM_011540178.1:c.2365A>G XP_011538480.1:p.Lys789Glu
XM_011540177.3:c.2368A>G XP_011538479.1:p.Lys790Glu
XM_011540178.3:c.2365A>G XP_011538480.1:p.Lys789Glu
NM_001195263.2:c.2368A>G MANE Select NP_001182192.1:p.Lys790Glu
Search 100 bp 5'
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