Canonical Allele Identifier: CA343107

Gene: PRX

Linked Data

• ClinVar Variation Id: 4792
• ClinVar RCV Id: RCV000032004 ; RCV000474032 ; RCV000760319 ; RCV001172756 ; RCV002426489
• dbSNP Id: rs104894707
• ExAC: 19:40902114 A / T
• gnomAD v2: 19-40902114-A-T
• gnomAD v3: 19-40396207-A-T
• gnomAD v4: 19-40396207-A-T
• MyVariant Identifiers: chr19:g.40902114A>T (hg19) ; chr19:g.40396207A>T (hg38)
• PubMed: PMID:12112076 ; PMID:20301641

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396207A>T , CM000681.2:g.40396207A>T	GRCh38
NC_000019.9:g.40902114A>T , CM000681.1:g.40902114A>T	GRCh37
NC_000019.8:g.45593954A>T	NCBI36
NG_007979.1:g.22158T>A , LRG_265:g.22158T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2145T>A MANE Select	ENSP00000326018.6:p.Cys715Ter
ENST00000673881.1:c.1728T>A	ENSP00000501070.1:p.Cys576Ter
ENST00000674005.2:c.2430T>A	ENSP00000501261.1:p.Cys810Ter
ENST00000674773.1:c.1728T>A	ENSP00000502579.1:p.Cys576Ter
ENST00000675517.1:c.2020T>A
ENST00000676076.1:c.2006T>A
ENST00000676260.1:c.2107T>A
ENST00000676316.1:c.2032T>A
ENST00000291825.11:c.*2350T>A	ENSP00000291825.6:n.*2350T>A
ENST00000324001.7:c.2145T>A	ENSP00000326018.6:p.Cys715Ter
NM_020956.2:c.*2350T>A , LRG_265t1:c.*2350T>A	NP_066007.1:n.*2350T>A
NM_181882.2:c.2145T>A , LRG_265t2:c.2145T>A	NP_870998.2:p.Cys715Ter
XM_011527171.1:c.2145T>A	XP_011525473.1:p.Cys715Ter
XM_011527171.2:c.2145T>A	XP_011525473.1:p.Cys715Ter
XM_017027046.1:c.2043T>A	XP_016882535.1:p.Cys681Ter
XM_017027047.1:c.2043T>A	XP_016882536.1:p.Cys681Ter
NM_181882.3:c.2145T>A MANE Select	NP_870998.2:p.Cys715Ter