Canonical Allele Identifier: CA9444242

Gene: PRX

Linked Data

• ClinVar Variation Id: 246316
• ClinVar RCV Id: RCV000236385 ; RCV000764202 ; RCV000802296 ; RCV001136189 ; RCV002401925 ; RCV003333056
• dbSNP Id: rs144305922
• ExAC: 19:40902713 G / A
• gnomAD v2: 19-40902713-G-A
• gnomAD v3: 19-40396806-G-A
• gnomAD v4: 19-40396806-G-A
• MyVariant Identifiers: chr19:g.40902713G>A (hg19) ; chr19:g.40396806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396806G>A , CM000681.2:g.40396806G>A	GRCh38
NC_000019.9:g.40902713G>A , CM000681.1:g.40902713G>A	GRCh37
NC_000019.8:g.45594553G>A	NCBI36
NG_007979.1:g.21559C>T , LRG_265:g.21559C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1546C>T MANE Select	ENSP00000326018.6:p.Arg516Trp
ENST00000673881.1:c.1129C>T	ENSP00000501070.1:p.Arg377Trp
ENST00000674005.2:c.1831C>T	ENSP00000501261.1:p.Arg611Trp
ENST00000674773.1:c.1129C>T	ENSP00000502579.1:p.Arg377Trp
ENST00000675517.1:c.1421C>T
ENST00000676076.1:c.1407C>T
ENST00000676260.1:c.1508C>T
ENST00000676316.1:c.1433C>T
ENST00000291825.11:c.*1751C>T	ENSP00000291825.6:n.*1751C>T
ENST00000324001.7:c.1546C>T	ENSP00000326018.6:p.Arg516Trp
NM_020956.2:c.*1751C>T , LRG_265t1:c.*1751C>T	NP_066007.1:n.*1751C>T
NM_181882.2:c.1546C>T , LRG_265t2:c.1546C>T	NP_870998.2:p.Arg516Trp
XM_011527171.1:c.1546C>T	XP_011525473.1:p.Arg516Trp
XM_011527171.2:c.1546C>T	XP_011525473.1:p.Arg516Trp
XM_017027046.1:c.1444C>T	XP_016882535.1:p.Arg482Trp
XM_017027047.1:c.1444C>T	XP_016882536.1:p.Arg482Trp
NM_181882.3:c.1546C>T MANE Select	NP_870998.2:p.Arg516Trp