Canonical Allele Identifier: CA527685320
Gene: PDC HGNC NCBI
PDC-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1206491705
gnomAD v2: 1-186422428-T-A
gnomAD v3: 1-186453296-T-A
gnomAD v4: 1-186453296-T-A
MyVariant Identifiers: chr1:g.186422428T>A (hg19) chr1:g.186453296T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.186453296T>A , CM000663.2:g.186453296T>A GRCh38
NC_000001.10:g.186422428T>A , CM000663.1:g.186422428T>A GRCh37
NC_000001.9:g.184689051T>A NCBI36
NG_009101.1:g.12812A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000391997.3:c.-24-3813A>T (PDC) MANE Select ENSP00000375855.2:n.-24-3813A>T
ENST00000391997.2:c.-24-3813A>T (PDC) ENSP00000375855.2:n.-24-3813A>T
NM_002597.4:c.-24-3813A>T (PDC) NP_002588.3:n.-24-3813A>T
NR_126002.1:n.441+2022T>A (PDC-AS1)
NM_002597.5:c.-24-3813A>T (PDC) MANE Select NP_002588.3:n.-24-3813A>T
Search 100 bp 5'
Search 100 bp 3'