Canonical Allele Identifier: CA9443906

Gene: PRX

Linked Data

• ClinVar Variation Id: 329260
• ClinVar RCV Id: RCV000475571 ; RCV000480450 ; RCV000766643 ; RCV001094557 ; RCV002323535
• dbSNP Id: rs146222815
• ExAC: 19:40901050 C / T
• gnomAD v2: 19-40901050-C-T
• gnomAD v3: 19-40395143-C-T
• gnomAD v4: 19-40395143-C-T
• MyVariant Identifiers: chr19:g.40901050C>T (hg19) ; chr19:g.40395143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395143C>T , CM000681.2:g.40395143C>T	GRCh38
NC_000019.9:g.40901050C>T , CM000681.1:g.40901050C>T	GRCh37
NC_000019.8:g.45592890C>T	NCBI36
NG_007979.1:g.23222G>A , LRG_265:g.23222G>A
NG_051224.1:g.79G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3209G>A MANE Select	ENSP00000326018.6:p.Arg1070Gln
ENST00000673881.1:c.2792G>A	ENSP00000501070.1:p.Arg931Gln
ENST00000674005.2:c.3494G>A	ENSP00000501261.1:p.Arg1165Gln
ENST00000674773.1:c.2792G>A	ENSP00000502579.1:p.Arg931Gln
ENST00000675517.1:c.3084G>A
ENST00000676076.1:c.3070G>A
ENST00000676260.1:c.3171G>A
ENST00000676316.1:c.3096G>A
ENST00000291825.11:c.*3414G>A	ENSP00000291825.6:n.*3414G>A
ENST00000324001.7:c.3209G>A	ENSP00000326018.6:p.Arg1070Gln
NM_020956.2:c.*3414G>A , LRG_265t1:c.*3414G>A	NP_066007.1:n.*3414G>A
NM_181882.2:c.3209G>A , LRG_265t2:c.3209G>A	NP_870998.2:p.Arg1070Gln
XM_011527171.1:c.3209G>A	XP_011525473.1:p.Arg1070Gln
XM_011527171.2:c.3209G>A	XP_011525473.1:p.Arg1070Gln
XM_017027046.1:c.3107G>A	XP_016882535.1:p.Arg1036Gln
XM_017027047.1:c.3107G>A	XP_016882536.1:p.Arg1036Gln
NM_181882.3:c.3209G>A MANE Select	NP_870998.2:p.Arg1070Gln