Canonical Allele Identifier: CA308421072

Gene: PRX

Linked Data

• ClinVar Variation Id: 1037679
• ClinVar RCV Id: RCV001340870
• dbSNP Id: rs377089486
• gnomAD v2: 19-40903093-G-C
• gnomAD v3: 19-40397186-G-C
• gnomAD v4: 19-40397186-G-C
• MyVariant Identifiers: chr19:g.40903093G>C (hg19) ; chr19:g.40397186G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397186G>C , CM000681.2:g.40397186G>C	GRCh38
NC_000019.9:g.40903093G>C , CM000681.1:g.40903093G>C	GRCh37
NC_000019.8:g.45594933G>C	NCBI36
NG_007979.1:g.21179C>G , LRG_265:g.21179C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1166C>G MANE Select	ENSP00000326018.6:p.Pro389Arg
ENST00000673881.1:c.749C>G	ENSP00000501070.1:p.Pro250Arg
ENST00000674005.2:c.1451C>G	ENSP00000501261.1:p.Pro484Arg
ENST00000674773.1:c.749C>G	ENSP00000502579.1:p.Pro250Arg
ENST00000675517.1:c.1041C>G
ENST00000676076.1:c.1027C>G
ENST00000676260.1:c.1128C>G
ENST00000676316.1:c.1053C>G
ENST00000291825.11:c.*1371C>G	ENSP00000291825.6:n.*1371C>G
ENST00000324001.7:c.1166C>G	ENSP00000326018.6:p.Pro389Arg
NM_020956.2:c.*1371C>G , LRG_265t1:c.*1371C>G	NP_066007.1:n.*1371C>G
NM_181882.2:c.1166C>G , LRG_265t2:c.1166C>G	NP_870998.2:p.Pro389Arg
XM_011527171.1:c.1166C>G	XP_011525473.1:p.Pro389Arg
XM_011527171.2:c.1166C>G	XP_011525473.1:p.Pro389Arg
XM_017027046.1:c.1064C>G	XP_016882535.1:p.Pro355Arg
XM_017027047.1:c.1064C>G	XP_016882536.1:p.Pro355Arg
NM_181882.3:c.1166C>G MANE Select	NP_870998.2:p.Pro389Arg