Canonical Allele Identifier: CA405898950

Gene: PRX

Linked Data

• ClinVar Variation Id: 1737571
• ClinVar RCV Id: RCV002323061
• gnomAD v4: 19-40397189-C-A
• MyVariant Identifiers: chr19:g.40903096C>A (hg19) ; chr19:g.40397189C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397189C>A , CM000681.2:g.40397189C>A	GRCh38
NC_000019.9:g.40903096C>A , CM000681.1:g.40903096C>A	GRCh37
NC_000019.8:g.45594936C>A	NCBI36
NG_007979.1:g.21176G>T , LRG_265:g.21176G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1163G>T MANE Select	ENSP00000326018.6:p.Gly388Val
ENST00000673881.1:c.746G>T	ENSP00000501070.1:p.Gly249Val
ENST00000674005.2:c.1448G>T	ENSP00000501261.1:p.Gly483Val
ENST00000674773.1:c.746G>T	ENSP00000502579.1:p.Gly249Val
ENST00000675517.1:c.1038G>T
ENST00000676076.1:c.1024G>T
ENST00000676260.1:c.1125G>T
ENST00000676316.1:c.1050G>T
ENST00000291825.11:c.*1368G>T	ENSP00000291825.6:n.*1368G>T
ENST00000324001.7:c.1163G>T	ENSP00000326018.6:p.Gly388Val
NM_020956.2:c.*1368G>T , LRG_265t1:c.*1368G>T	NP_066007.1:n.*1368G>T
NM_181882.2:c.1163G>T , LRG_265t2:c.1163G>T	NP_870998.2:p.Gly388Val
XM_011527171.1:c.1163G>T	XP_011525473.1:p.Gly388Val
XM_011527171.2:c.1163G>T	XP_011525473.1:p.Gly388Val
XM_017027046.1:c.1061G>T	XP_016882535.1:p.Gly354Val
XM_017027047.1:c.1061G>T	XP_016882536.1:p.Gly354Val
NM_181882.3:c.1163G>T MANE Select	NP_870998.2:p.Gly388Val