Canonical Allele Identifier: CA9444159

Gene: PRX

Linked Data

• ClinVar Variation Id: 329271
• ClinVar RCV Id: RCV001173084 ; RCV001706526 ; RCV000544205 ; RCV001094571 ; RCV002487453
• dbSNP Id: rs118003416
• ExAC: 19:40902295 G / A
• gnomAD v2: 19-40902295-G-A
• gnomAD v3: 19-40396388-G-A
• gnomAD v4: 19-40396388-G-A
• MyVariant Identifiers: chr19:g.40902295G>A (hg19) ; chr19:g.40396388G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396388G>A , CM000681.2:g.40396388G>A	GRCh38
NC_000019.9:g.40902295G>A , CM000681.1:g.40902295G>A	GRCh37
NC_000019.8:g.45594135G>A	NCBI36
NG_007979.1:g.21977C>T , LRG_265:g.21977C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1964C>T MANE Select	ENSP00000326018.6:p.Pro655Leu
ENST00000673881.1:c.1547C>T	ENSP00000501070.1:p.Pro516Leu
ENST00000674005.2:c.2249C>T	ENSP00000501261.1:p.Pro750Leu
ENST00000674773.1:c.1547C>T	ENSP00000502579.1:p.Pro516Leu
ENST00000675517.1:c.1839C>T
ENST00000676076.1:c.1825C>T
ENST00000676260.1:c.1926C>T
ENST00000676316.1:c.1851C>T
ENST00000291825.11:c.*2169C>T	ENSP00000291825.6:n.*2169C>T
ENST00000324001.7:c.1964C>T	ENSP00000326018.6:p.Pro655Leu
NM_020956.2:c.*2169C>T , LRG_265t1:c.*2169C>T	NP_066007.1:n.*2169C>T
NM_181882.2:c.1964C>T , LRG_265t2:c.1964C>T	NP_870998.2:p.Pro655Leu
XM_011527171.1:c.1964C>T	XP_011525473.1:p.Pro655Leu
XM_011527171.2:c.1964C>T	XP_011525473.1:p.Pro655Leu
XM_017027046.1:c.1862C>T	XP_016882535.1:p.Pro621Leu
XM_017027047.1:c.1862C>T	XP_016882536.1:p.Pro621Leu
NM_181882.3:c.1964C>T MANE Select	NP_870998.2:p.Pro655Leu