Canonical Allele Identifier: CA9444047

Gene: PRX

Linked Data

• ClinVar Variation Id: 378435
• ClinVar RCV Id: RCV000442169 ; RCV000473709 ; RCV001083186 ; RCV001136102 ; RCV001173964 ; RCV002450964
• dbSNP Id: rs61733450
• ExAC: 19:40901790 C / T
• gnomAD v2: 19-40901790-C-T
• gnomAD v3: 19-40395883-C-T
• gnomAD v4: 19-40395883-C-T
• MyVariant Identifiers: chr19:g.40901790C>T (hg19) ; chr19:g.40395883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395883C>T , CM000681.2:g.40395883C>T	GRCh38
NC_000019.9:g.40901790C>T , CM000681.1:g.40901790C>T	GRCh37
NC_000019.8:g.45593630C>T	NCBI36
NG_007979.1:g.22482G>A , LRG_265:g.22482G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2469G>A MANE Select	ENSP00000326018.6:p.Ala823=
ENST00000673881.1:c.2052G>A	ENSP00000501070.1:p.Ala684=
ENST00000674005.2:c.2754G>A	ENSP00000501261.1:p.Ala918=
ENST00000674773.1:c.2052G>A	ENSP00000502579.1:p.Ala684=
ENST00000675517.1:c.2344G>A
ENST00000676076.1:c.2330G>A
ENST00000676260.1:c.2431G>A
ENST00000676316.1:c.2356G>A
ENST00000291825.11:c.*2674G>A	ENSP00000291825.6:n.*2674G>A
ENST00000324001.7:c.2469G>A	ENSP00000326018.6:p.Ala823=
NM_020956.2:c.*2674G>A , LRG_265t1:c.*2674G>A	NP_066007.1:n.*2674G>A
NM_181882.2:c.2469G>A , LRG_265t2:c.2469G>A	NP_870998.2:p.Ala823=
XM_011527171.1:c.2469G>A	XP_011525473.1:p.Ala823=
XM_011527171.2:c.2469G>A	XP_011525473.1:p.Ala823=
XM_017027046.1:c.2367G>A	XP_016882535.1:p.Ala789=
XM_017027047.1:c.2367G>A	XP_016882536.1:p.Ala789=
NM_181882.3:c.2469G>A MANE Select	NP_870998.2:p.Ala823=