Canonical Allele Identifier: CA9444344

Gene: PRX

Linked Data

• ClinVar Variation Id: 476984
• ClinVar RCV Id: RCV000558551 ; RCV001129238 ; RCV001173788 ; RCV001584361 ; RCV001662607 ; RCV002384262
• dbSNP Id: rs146323928
• ExAC: 19:40903266 C / T
• gnomAD v2: 19-40903266-C-T
• gnomAD v3: 19-40397359-C-T
• gnomAD v4: 19-40397359-C-T
• MyVariant Identifiers: chr19:g.40903266C>T (hg19) ; chr19:g.40397359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397359C>T , CM000681.2:g.40397359C>T	GRCh38
NC_000019.9:g.40903266C>T , CM000681.1:g.40903266C>T	GRCh37
NC_000019.8:g.45595106C>T	NCBI36
NG_007979.1:g.21006G>A , LRG_265:g.21006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.993G>A MANE Select	ENSP00000326018.6:p.Pro331=
ENST00000673881.1:c.576G>A	ENSP00000501070.1:p.Pro192=
ENST00000674005.2:c.1278G>A	ENSP00000501261.1:p.Pro426=
ENST00000674773.1:c.576G>A	ENSP00000502579.1:p.Pro192=
ENST00000675517.1:c.868G>A
ENST00000676076.1:c.854G>A
ENST00000676260.1:c.955G>A
ENST00000676316.1:c.880G>A
ENST00000291825.11:c.*1198G>A	ENSP00000291825.6:n.*1198G>A
ENST00000324001.7:c.993G>A	ENSP00000326018.6:p.Pro331=
NM_020956.2:c.*1198G>A , LRG_265t1:c.*1198G>A	NP_066007.1:n.*1198G>A
NM_181882.2:c.993G>A , LRG_265t2:c.993G>A	NP_870998.2:p.Pro331=
XM_011527171.1:c.993G>A	XP_011525473.1:p.Pro331=
XM_011527171.2:c.993G>A	XP_011525473.1:p.Pro331=
XM_017027046.1:c.891G>A	XP_016882535.1:p.Pro297=
XM_017027047.1:c.891G>A	XP_016882536.1:p.Pro297=
NM_181882.3:c.993G>A MANE Select	NP_870998.2:p.Pro331=