Canonical Allele Identifier: CA33521299
Gene: PDC HGNC NCBI
PDC-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs371059092
gnomAD v2: 1-186422423-G-A
gnomAD v3: 1-186453291-G-A
gnomAD v4: 1-186453291-G-A
MyVariant Identifiers: chr1:g.186422423G>A (hg19) chr1:g.186453291G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453291G>A , CM000663.2:g.186453291G>A GRCh38
NC_000001.10:g.186422423G>A , CM000663.1:g.186422423G>A GRCh37
NC_000001.9:g.184689046G>A NCBI36
NG_009101.1:g.12817C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3808C>T (PDC) MANE Select ENSP00000375855.2:n.-24-3808C>T
ENST00000391997.2:c.-24-3808C>T (PDC) ENSP00000375855.2:n.-24-3808C>T
NM_002597.4:c.-24-3808C>T (PDC) NP_002588.3:n.-24-3808C>T
NR_126002.1:n.441+2017G>A (PDC-AS1)
NM_002597.5:c.-24-3808C>T (PDC) MANE Select NP_002588.3:n.-24-3808C>T
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