Canonical Allele Identifier: CA117076

Gene: PRX

Linked Data

• ClinVar Variation Id: 4787
• ClinVar RCV Id: RCV000005053 ; RCV000201141 ; RCV000236836 ; RCV000458979 ; RCV001172752
• dbSNP Id: rs104894714
• ExAC: 19:40901402 G / A
• gnomAD v2: 19-40901402-G-A
• gnomAD v4: 19-40395495-G-A
• MyVariant Identifiers: chr19:g.40901402G>A (hg19) ; chr19:g.40395495G>A (hg38)
• PubMed: PMID:11133365

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395495G>A , CM000681.2:g.40395495G>A	GRCh38
NC_000019.9:g.40901402G>A , CM000681.1:g.40901402G>A	GRCh37
NC_000019.8:g.45593242G>A	NCBI36
NG_007979.1:g.22870C>T , LRG_265:g.22870C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2857C>T MANE Select	ENSP00000326018.6:p.Arg953Ter
ENST00000673881.1:c.2440C>T	ENSP00000501070.1:p.Arg814Ter
ENST00000674005.2:c.3142C>T	ENSP00000501261.1:p.Arg1048Ter
ENST00000674773.1:c.2440C>T	ENSP00000502579.1:p.Arg814Ter
ENST00000675517.1:c.2732C>T
ENST00000676076.1:c.2718C>T
ENST00000676260.1:c.2819C>T
ENST00000676316.1:c.2744C>T
ENST00000291825.11:c.*3062C>T	ENSP00000291825.6:n.*3062C>T
ENST00000324001.7:c.2857C>T	ENSP00000326018.6:p.Arg953Ter
NM_020956.2:c.*3062C>T , LRG_265t1:c.*3062C>T	NP_066007.1:n.*3062C>T
NM_181882.2:c.2857C>T , LRG_265t2:c.2857C>T	NP_870998.2:p.Arg953Ter
XM_011527171.1:c.2857C>T	XP_011525473.1:p.Arg953Ter
XM_011527171.2:c.2857C>T	XP_011525473.1:p.Arg953Ter
XM_017027046.1:c.2755C>T	XP_016882535.1:p.Arg919Ter
XM_017027047.1:c.2755C>T	XP_016882536.1:p.Arg919Ter
NM_181882.3:c.2857C>T MANE Select	NP_870998.2:p.Arg953Ter