Canonical Allele Identifier: CA9443971

Gene: PRX

Linked Data

• ClinVar Variation Id: 386663
• ClinVar RCV Id: RCV000425577 ; RCV000862651 ; RCV001131684 ; RCV002436311 ; RCV003902579
• dbSNP Id: rs145226687
• ExAC: 19:40901427 A / G
• gnomAD v2: 19-40901427-A-G
• gnomAD v3: 19-40395520-A-G
• gnomAD v4: 19-40395520-A-G
• MyVariant Identifiers: chr19:g.40901427A>G (hg19) ; chr19:g.40395520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395520A>G , CM000681.2:g.40395520A>G	GRCh38
NC_000019.9:g.40901427A>G , CM000681.1:g.40901427A>G	GRCh37
NC_000019.8:g.45593267A>G	NCBI36
NG_007979.1:g.22845T>C , LRG_265:g.22845T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2832T>C MANE Select	ENSP00000326018.6:p.Ala944=
ENST00000673881.1:c.2415T>C	ENSP00000501070.1:p.Ala805=
ENST00000674005.2:c.3117T>C	ENSP00000501261.1:p.Ala1039=
ENST00000674773.1:c.2415T>C	ENSP00000502579.1:p.Ala805=
ENST00000675517.1:c.2707T>C
ENST00000676076.1:c.2693T>C
ENST00000676260.1:c.2794T>C
ENST00000676316.1:c.2719T>C
ENST00000291825.11:c.*3037T>C	ENSP00000291825.6:n.*3037T>C
ENST00000324001.7:c.2832T>C	ENSP00000326018.6:p.Ala944=
NM_020956.2:c.*3037T>C , LRG_265t1:c.*3037T>C	NP_066007.1:n.*3037T>C
NM_181882.2:c.2832T>C , LRG_265t2:c.2832T>C	NP_870998.2:p.Ala944=
XM_011527171.1:c.2832T>C	XP_011525473.1:p.Ala944=
XM_011527171.2:c.2832T>C	XP_011525473.1:p.Ala944=
XM_017027046.1:c.2730T>C	XP_016882535.1:p.Ala910=
XM_017027047.1:c.2730T>C	XP_016882536.1:p.Ala910=
NM_181882.3:c.2832T>C MANE Select	NP_870998.2:p.Ala944=