Canonical Allele Identifier: CA9444240

Gene: PRX

Linked Data

• ClinVar Variation Id: 329275
• ClinVar RCV Id: RCV000275615 ; RCV002521231 ; RCV002523067
• dbSNP Id: rs550446238
• ExAC: 19:40902691 A / G
• gnomAD v2: 19-40902691-A-G
• gnomAD v3: 19-40396784-A-G
• gnomAD v4: 19-40396784-A-G
• MyVariant Identifiers: chr19:g.40902691A>G (hg19) ; chr19:g.40396784A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396784A>G , CM000681.2:g.40396784A>G	GRCh38
NC_000019.9:g.40902691A>G , CM000681.1:g.40902691A>G	GRCh37
NC_000019.8:g.45594531A>G	NCBI36
NG_007979.1:g.21581T>C , LRG_265:g.21581T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1568T>C MANE Select	ENSP00000326018.6:p.Leu523Pro
ENST00000673881.1:c.1151T>C	ENSP00000501070.1:p.Leu384Pro
ENST00000674005.2:c.1853T>C	ENSP00000501261.1:p.Leu618Pro
ENST00000674773.1:c.1151T>C	ENSP00000502579.1:p.Leu384Pro
ENST00000675517.1:c.1443T>C
ENST00000676076.1:c.1429T>C
ENST00000676260.1:c.1530T>C
ENST00000676316.1:c.1455T>C
ENST00000291825.11:c.*1773T>C	ENSP00000291825.6:n.*1773T>C
ENST00000324001.7:c.1568T>C	ENSP00000326018.6:p.Leu523Pro
NM_020956.2:c.*1773T>C , LRG_265t1:c.*1773T>C	NP_066007.1:n.*1773T>C
NM_181882.2:c.1568T>C , LRG_265t2:c.1568T>C	NP_870998.2:p.Leu523Pro
XM_011527171.1:c.1568T>C	XP_011525473.1:p.Leu523Pro
XM_011527171.2:c.1568T>C	XP_011525473.1:p.Leu523Pro
XM_017027046.1:c.1466T>C	XP_016882535.1:p.Leu489Pro
XM_017027047.1:c.1466T>C	XP_016882536.1:p.Leu489Pro
NM_181882.3:c.1568T>C MANE Select	NP_870998.2:p.Leu523Pro