Canonical Allele Identifier: CA137283532
Gene: PPARD HGNC NCBI

Linked Data

dbSNP Id: rs766429331
gnomAD v2: 6-35350001-T-C
gnomAD v3: 6-35382224-T-C
gnomAD v4: 6-35382224-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.35382224T>C , CM000668.2:g.35382224T>C GRCh38
NC_000006.11:g.35350001T>C , CM000668.1:g.35350001T>C GRCh37
NC_000006.10:g.35457979T>C NCBI36
NG_012345.1:g.44667T>C
NG_012345.2:g.44667T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360694.8:c.-101-28763T>C MANE Select ENSP00000353916.3:n.-101-28763T>C
ENST00000311565.4:c.-197-15274T>C ENSP00000310928.4:n.-197-15274T>C
ENST00000337400.6:c.-197-15274T>C ENSP00000337063.2:n.-197-15274T>C
ENST00000360694.7:c.-101-28763T>C ENSP00000353916.3:n.-101-28763T>C
ENST00000418635.6:c.-101-28763T>C ENSP00000413314.2:n.-101-28763T>C
ENST00000448077.6:c.13+35074T>C ENSP00000414372.2:n.13+35074T>C
NM_001171818.1:c.-197-15274T>C NP_001165289.1:n.-197-15274T>C
NM_001171819.1:c.13+35074T>C NP_001165290.1:n.13+35074T>C
NM_001171820.1:c.-101-28763T>C NP_001165291.1:n.-101-28763T>C
NM_006238.4:c.-101-28763T>C NP_006229.1:n.-101-28763T>C
NM_177435.2:c.-101-28763T>C NP_803184.1:n.-101-28763T>C
XM_005249193.1:c.-101-28763T>C XP_005249250.1:n.-101-28763T>C
XM_006715120.1:c.-101-28763T>C XP_006715183.1:n.-101-28763T>C
XM_006715121.1:c.-101-28763T>C XP_006715184.1:n.-101-28763T>C
XM_006715123.1:c.-101-28763T>C XP_006715186.1:n.-101-28763T>C
XM_011514707.1:c.-101-28763T>C XP_011513009.1:n.-101-28763T>C
XM_011514708.1:c.-101-28763T>C XP_011513010.1:n.-101-28763T>C
XM_011514709.1:c.-197-15274T>C XP_011513011.1:n.-197-15274T>C
XM_011514710.1:c.-101-28763T>C XP_011513012.1:n.-101-28763T>C
XM_011514711.1:c.-101-28763T>C XP_011513013.1:n.-101-28763T>C
XM_011514712.1:c.-101-28763T>C XP_011513014.1:n.-101-28763T>C
XM_011514713.1:c.-101-28763T>C XP_011513015.1:n.-101-28763T>C
XM_017010972.1:c.-250-27990T>C XP_016866461.1:n.-250-27990T>C
XM_017010973.1:c.-326-14753T>C XP_016866462.1:n.-326-14753T>C
XM_017010974.1:c.-101-28763T>C XP_016866463.1:n.-101-28763T>C
NM_006238.5:c.-101-28763T>C MANE Select NP_006229.1:n.-101-28763T>C
NM_001171818.2:c.-197-15274T>C NP_001165289.1:n.-197-15274T>C
NM_177435.3:c.-101-28763T>C NP_803184.1:n.-101-28763T>C
NM_001171819.2:c.13+35074T>C NP_001165290.1:n.13+35074T>C
NM_001171820.2:c.-101-28763T>C NP_001165291.1:n.-101-28763T>C