Canonical Allele Identifier: CA117079

Gene: PRX

Linked Data

• ClinVar Variation Id: 4789
• ClinVar RCV Id: RCV000005055 ; RCV000688310 ; RCV000760443 ; RCV001353155 ; RCV001813951 ; RCV002453248
• dbSNP Id: rs104894715
• ExAC: 19:40903157 G / A
• gnomAD v3: 19-40397250-G-A
• gnomAD v4: 19-40397250-G-A
• MyVariant Identifiers: chr19:g.40903157G>A (hg19) ; chr19:g.40397250G>A (hg38)
• PubMed: PMID:11133365

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397250G>A , CM000681.2:g.40397250G>A	GRCh38
NC_000019.9:g.40903157G>A , CM000681.1:g.40903157G>A	GRCh37
NC_000019.8:g.45594997G>A	NCBI36
NG_007979.1:g.21115C>T , LRG_265:g.21115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1102C>T MANE Select	ENSP00000326018.6:p.Arg368Ter
ENST00000673881.1:c.685C>T	ENSP00000501070.1:p.Arg229Ter
ENST00000674005.2:c.1387C>T	ENSP00000501261.1:p.Arg463Ter
ENST00000674773.1:c.685C>T	ENSP00000502579.1:p.Arg229Ter
ENST00000675517.1:c.977C>T
ENST00000676076.1:c.963C>T
ENST00000676260.1:c.1064C>T
ENST00000676316.1:c.989C>T
ENST00000291825.11:c.*1307C>T	ENSP00000291825.6:n.*1307C>T
ENST00000324001.7:c.1102C>T	ENSP00000326018.6:p.Arg368Ter
NM_020956.2:c.*1307C>T , LRG_265t1:c.*1307C>T	NP_066007.1:n.*1307C>T
NM_181882.2:c.1102C>T , LRG_265t2:c.1102C>T	NP_870998.2:p.Arg368Ter
XM_011527171.1:c.1102C>T	XP_011525473.1:p.Arg368Ter
XM_011527171.2:c.1102C>T	XP_011525473.1:p.Arg368Ter
XM_017027046.1:c.1000C>T	XP_016882535.1:p.Arg334Ter
XM_017027047.1:c.1000C>T	XP_016882536.1:p.Arg334Ter
NM_181882.3:c.1102C>T MANE Select	NP_870998.2:p.Arg368Ter