Canonical Allele Identifier: CA527685321
Gene: PDC HGNC NCBI
PDC-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1179578470
gnomAD v2: 1-186422467-A-C
gnomAD v3: 1-186453335-A-C
gnomAD v4: 1-186453335-A-C
MyVariant Identifiers: chr1:g.186422467A>C (hg19) chr1:g.186453335A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453335A>C , CM000663.2:g.186453335A>C GRCh38
NC_000001.10:g.186422467A>C , CM000663.1:g.186422467A>C GRCh37
NC_000001.9:g.184689090A>C NCBI36
NG_009101.1:g.12773T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3852T>G (PDC) MANE Select ENSP00000375855.2:n.-24-3852T>G
ENST00000391997.2:c.-24-3852T>G (PDC) ENSP00000375855.2:n.-24-3852T>G
NM_002597.4:c.-24-3852T>G (PDC) NP_002588.3:n.-24-3852T>G
NR_126002.1:n.441+2061A>C (PDC-AS1)
NM_002597.5:c.-24-3852T>G (PDC) MANE Select NP_002588.3:n.-24-3852T>G
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