Canonical Allele Identifier: CA9444052

Gene: PRX

Linked Data

• ClinVar Variation Id: 245733
• ClinVar RCV Id: RCV000654055 ; RCV001094602 ; RCV000992713 ; RCV002429145 ; RCV003391002
• dbSNP Id: rs147441856
• ExAC: 19:40901810 G / A
• gnomAD v2: 19-40901810-G-A
• gnomAD v3: 19-40395903-G-A
• gnomAD v4: 19-40395903-G-A
• MyVariant Identifiers: chr19:g.40901810G>A (hg19) ; chr19:g.40395903G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395903G>A , CM000681.2:g.40395903G>A	GRCh38
NC_000019.9:g.40901810G>A , CM000681.1:g.40901810G>A	GRCh37
NC_000019.8:g.45593650G>A	NCBI36
NG_007979.1:g.22462C>T , LRG_265:g.22462C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2449C>T MANE Select	ENSP00000326018.6:p.Arg817Cys
ENST00000673881.1:c.2032C>T	ENSP00000501070.1:p.Arg678Cys
ENST00000674005.2:c.2734C>T	ENSP00000501261.1:p.Arg912Cys
ENST00000674773.1:c.2032C>T	ENSP00000502579.1:p.Arg678Cys
ENST00000675517.1:c.2324C>T
ENST00000676076.1:c.2310C>T
ENST00000676260.1:c.2411C>T
ENST00000676316.1:c.2336C>T
ENST00000291825.11:c.*2654C>T	ENSP00000291825.6:n.*2654C>T
ENST00000324001.7:c.2449C>T	ENSP00000326018.6:p.Arg817Cys
NM_020956.2:c.*2654C>T , LRG_265t1:c.*2654C>T	NP_066007.1:n.*2654C>T
NM_181882.2:c.2449C>T , LRG_265t2:c.2449C>T	NP_870998.2:p.Arg817Cys
XM_011527171.1:c.2449C>T	XP_011525473.1:p.Arg817Cys
XM_011527171.2:c.2449C>T	XP_011525473.1:p.Arg817Cys
XM_017027046.1:c.2347C>T	XP_016882535.1:p.Arg783Cys
XM_017027047.1:c.2347C>T	XP_016882536.1:p.Arg783Cys
NM_181882.3:c.2449C>T MANE Select	NP_870998.2:p.Arg817Cys