Canonical Allele Identifier: CA33536510
Gene: PDC HGNC NCBI
PDC-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.186448565T>G
GRCh37 chr1:g.186417697T>G
gnomAD v3:
1:186448565 T / G
gnomAD v4:
chr1-186448565-T-G
Joint Max Group AF 0.00001739 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001609 (NFE)
dbSNP:
6672836
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186448565T>G , CM000663.2:g.186448565T>G GRCh38
NC_000001.10:g.186417697T>G , CM000663.1:g.186417697T>G GRCh37
NC_000001.9:g.184684320T>G NCBI36
NG_009101.1:g.17543A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.61+834A>C (PDC) MANE Select ENSP00000375855.2:n.61+834A>C
ENST00000391997.2:c.61+834A>C (PDC) ENSP00000375855.2:n.61+834A>C
ENST00000497198.1:c.-96+63A>C (PDC) ENSP00000422775.1:n.-96+63A>C
NM_002597.4:c.61+834A>C (PDC) NP_002588.3:n.61+834A>C
NM_022576.3:c.-96+63A>C (PDC) NP_072098.1:n.-96+63A>C
NR_126002.1:n.346-2614T>G (PDC-AS1)
XM_011509603.1:c.61+834A>C (PDC) XP_011507905.1:n.61+834A>C
XM_011509603.2:c.61+834A>C (PDC) XP_011507905.1:n.61+834A>C
NM_002597.5:c.61+834A>C (PDC) MANE Select NP_002588.3:n.61+834A>C
NM_022576.4:c.-96+63A>C (PDC) NP_072098.1:n.-96+63A>C
Search 100 bp 5'
Search 100 bp 3'