Canonical Allele Identifier: CA9444093

Gene: PRX

Linked Data

• ClinVar Variation Id: 512600
• ClinVar RCV Id: RCV001718975 ; RCV001440727 ; RCV002448879 ; RCV003945511
• dbSNP Id: rs370753668
• ExAC: 19:40901994 C / T
• gnomAD v2: 19-40901994-C-T
• gnomAD v3: 19-40396087-C-T
• gnomAD v4: 19-40396087-C-T
• MyVariant Identifiers: chr19:g.40901994C>T (hg19) ; chr19:g.40396087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396087C>T , CM000681.2:g.40396087C>T	GRCh38
NC_000019.9:g.40901994C>T , CM000681.1:g.40901994C>T	GRCh37
NC_000019.8:g.45593834C>T	NCBI36
NG_007979.1:g.22278G>A , LRG_265:g.22278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2265G>A MANE Select	ENSP00000326018.6:p.Leu755=
ENST00000673881.1:c.1848G>A	ENSP00000501070.1:p.Leu616=
ENST00000674005.2:c.2550G>A	ENSP00000501261.1:p.Leu850=
ENST00000674773.1:c.1848G>A	ENSP00000502579.1:p.Leu616=
ENST00000675517.1:c.2140G>A
ENST00000676076.1:c.2126G>A
ENST00000676260.1:c.2227G>A
ENST00000676316.1:c.2152G>A
ENST00000291825.11:c.*2470G>A	ENSP00000291825.6:n.*2470G>A
ENST00000324001.7:c.2265G>A	ENSP00000326018.6:p.Leu755=
NM_020956.2:c.*2470G>A , LRG_265t1:c.*2470G>A	NP_066007.1:n.*2470G>A
NM_181882.2:c.2265G>A , LRG_265t2:c.2265G>A	NP_870998.2:p.Leu755=
XM_011527171.1:c.2265G>A	XP_011525473.1:p.Leu755=
XM_011527171.2:c.2265G>A	XP_011525473.1:p.Leu755=
XM_017027046.1:c.2163G>A	XP_016882535.1:p.Leu721=
XM_017027047.1:c.2163G>A	XP_016882536.1:p.Leu721=
NM_181882.3:c.2265G>A MANE Select	NP_870998.2:p.Leu755=