Canonical Allele Identifier: CA10652984
Gene: PDYN HGNC NCBI
PDYN-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.1994212T>C
GRCh37 chr20:g.1974858T>C
gnomAD v2:
20:1974858 T / C
gnomAD v3:
20:1994212 T / C
gnomAD v4:
chr20-1994212-T-C
Joint Max Group AF 0.82942736 (EAS)
Genomes Max Group AF 0.83067009 (EAS)
Exomes Max Group AF 0.69615146 (EAS)
ClinVar RCV:
RCV000273681
ClinVar Variation:
337846
dbSNP:
1997794
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.1994212T>C , CM000682.2:g.1994212T>C GRCh38
NC_000020.10:g.1974858T>C , CM000682.1:g.1974858T>C GRCh37
NC_000020.9:g.1922858T>C NCBI36
NG_028027.1:g.5034A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000651882.1:c.-378A>G (PDYN) ENSP00000498752.1:n.-378A>G
ENST00000539905.5:c.-321A>G (PDYN) ENSP00000440185.1:n.-321A>G
NM_001190898.2:c.-378A>G (PDYN) NP_001177827.1:n.-378A>G
NM_001190899.2:c.-321A>G (PDYN) NP_001177828.1:n.-321A>G
NM_024411.4:c.-381A>G (PDYN) NP_077722.1:n.-381A>G
XR_244229.1:n.1217-12720T>C (PDYN-AS1)
NR_134520.1:n.1253-12720T>C (PDYN-AS1)
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