Canonical Allele Identifier: CA9444239

Gene: PRX

Linked Data

• ClinVar Variation Id: 242179
• ClinVar RCV Id: RCV000228501 ; RCV000431721 ; RCV000658836 ; RCV000789549 ; RCV001094584 ; RCV002401915
• dbSNP Id: rs149715830
• ExAC: 19:40902685 A / G
• gnomAD v2: 19-40902685-A-G
• gnomAD v3: 19-40396778-A-G
• gnomAD v4: 19-40396778-A-G
• MyVariant Identifiers: chr19:g.40902685A>G (hg19) ; chr19:g.40396778A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396778A>G , CM000681.2:g.40396778A>G	GRCh38
NC_000019.9:g.40902685A>G , CM000681.1:g.40902685A>G	GRCh37
NC_000019.8:g.45594525A>G	NCBI36
NG_007979.1:g.21587T>C , LRG_265:g.21587T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1574T>C MANE Select	ENSP00000326018.6:p.Val525Ala
ENST00000673881.1:c.1157T>C	ENSP00000501070.1:p.Val386Ala
ENST00000674005.2:c.1859T>C	ENSP00000501261.1:p.Val620Ala
ENST00000674773.1:c.1157T>C	ENSP00000502579.1:p.Val386Ala
ENST00000675517.1:c.1449T>C
ENST00000676076.1:c.1435T>C
ENST00000676260.1:c.1536T>C
ENST00000676316.1:c.1461T>C
ENST00000291825.11:c.*1779T>C	ENSP00000291825.6:n.*1779T>C
ENST00000324001.7:c.1574T>C	ENSP00000326018.6:p.Val525Ala
NM_020956.2:c.*1779T>C , LRG_265t1:c.*1779T>C	NP_066007.1:n.*1779T>C
NM_181882.2:c.1574T>C , LRG_265t2:c.1574T>C	NP_870998.2:p.Val525Ala
XM_011527171.1:c.1574T>C	XP_011525473.1:p.Val525Ala
XM_011527171.2:c.1574T>C	XP_011525473.1:p.Val525Ala
XM_017027046.1:c.1472T>C	XP_016882535.1:p.Val491Ala
XM_017027047.1:c.1472T>C	XP_016882536.1:p.Val491Ala
NM_181882.3:c.1574T>C MANE Select	NP_870998.2:p.Val525Ala