Canonical Allele Identifier: CA9444348

Gene: PRX

Linked Data

• ClinVar Variation Id: 329280
• ClinVar RCV Id: RCV000263431 ; RCV000601170 ; RCV002057513 ; RCV003897754 ; RCV002374560
• dbSNP Id: rs775367319
• ExAC: 19:40903299 C / T
• gnomAD v2: 19-40903299-C-T
• gnomAD v3: 19-40397392-C-T
• gnomAD v4: 19-40397392-C-T
• MyVariant Identifiers: chr19:g.40903299C>T (hg19) ; chr19:g.40397392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397392C>T , CM000681.2:g.40397392C>T	GRCh38
NC_000019.9:g.40903299C>T , CM000681.1:g.40903299C>T	GRCh37
NC_000019.8:g.45595139C>T	NCBI36
NG_007979.1:g.20973G>A , LRG_265:g.20973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.960G>A MANE Select	ENSP00000326018.6:p.Ser320=
ENST00000673881.1:c.543G>A	ENSP00000501070.1:p.Ser181=
ENST00000674005.2:c.1245G>A	ENSP00000501261.1:p.Ser415=
ENST00000674773.1:c.543G>A	ENSP00000502579.1:p.Ser181=
ENST00000675517.1:c.835G>A
ENST00000676076.1:c.821G>A
ENST00000676260.1:c.922G>A
ENST00000676316.1:c.847G>A
ENST00000291825.11:c.*1165G>A	ENSP00000291825.6:n.*1165G>A
ENST00000324001.7:c.960G>A	ENSP00000326018.6:p.Ser320=
NM_020956.2:c.*1165G>A , LRG_265t1:c.*1165G>A	NP_066007.1:n.*1165G>A
NM_181882.2:c.960G>A , LRG_265t2:c.960G>A	NP_870998.2:p.Ser320=
XM_011527171.1:c.960G>A	XP_011525473.1:p.Ser320=
XM_011527171.2:c.960G>A	XP_011525473.1:p.Ser320=
XM_017027046.1:c.858G>A	XP_016882535.1:p.Ser286=
XM_017027047.1:c.858G>A	XP_016882536.1:p.Ser286=
NM_181882.3:c.960G>A MANE Select	NP_870998.2:p.Ser320=