Canonical Allele Identifier: CA9443905

Gene: PRX

Linked Data

• ClinVar Variation Id: 329259
• ClinVar RCV Id: RCV000465384 ; RCV001094556 ; RCV001173963 ; RCV000425125 ; RCV000712867
• dbSNP Id: rs61733451
• ExAC: 19:40901041 T / C
• gnomAD v2: 19-40901041-T-C
• gnomAD v3: 19-40395134-T-C
• gnomAD v4: 19-40395134-T-C
• MyVariant Identifiers: chr19:g.40901041T>C (hg19) ; chr19:g.40395134T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395134T>C , CM000681.2:g.40395134T>C	GRCh38
NC_000019.9:g.40901041T>C , CM000681.1:g.40901041T>C	GRCh37
NC_000019.8:g.45592881T>C	NCBI36
NG_007979.1:g.23231A>G , LRG_265:g.23231A>G
NG_051224.1:g.88A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3218A>G MANE Select	ENSP00000326018.6:p.Glu1073Gly
ENST00000673881.1:c.2801A>G	ENSP00000501070.1:p.Glu934Gly
ENST00000674005.2:c.3503A>G	ENSP00000501261.1:p.Glu1168Gly
ENST00000674773.1:c.2801A>G	ENSP00000502579.1:p.Glu934Gly
ENST00000675517.1:c.3093A>G
ENST00000676076.1:c.3079A>G
ENST00000676260.1:c.3180A>G
ENST00000676316.1:c.3105A>G
ENST00000291825.11:c.*3423A>G	ENSP00000291825.6:n.*3423A>G
ENST00000324001.7:c.3218A>G	ENSP00000326018.6:p.Glu1073Gly
NM_020956.2:c.*3423A>G , LRG_265t1:c.*3423A>G	NP_066007.1:n.*3423A>G
NM_181882.2:c.3218A>G , LRG_265t2:c.3218A>G	NP_870998.2:p.Glu1073Gly
XM_011527171.1:c.3218A>G	XP_011525473.1:p.Glu1073Gly
XM_011527171.2:c.3218A>G	XP_011525473.1:p.Glu1073Gly
XM_017027046.1:c.3116A>G	XP_016882535.1:p.Glu1039Gly
XM_017027047.1:c.3116A>G	XP_016882536.1:p.Glu1039Gly
NM_181882.3:c.3218A>G MANE Select	NP_870998.2:p.Glu1073Gly