Canonical Allele Identifier: CA308420013

Gene: PRX

Linked Data

• ClinVar Variation Id: 449753
• ClinVar RCV Id: RCV000520158 ; RCV003403232
• dbSNP Id: rs201204029
• gnomAD v4: 19-40396452-T-C
• MyVariant Identifiers: chr19:g.40902359T>C (hg19) ; chr19:g.40396452T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396452T>C , CM000681.2:g.40396452T>C	GRCh38
NC_000019.9:g.40902359T>C , CM000681.1:g.40902359T>C	GRCh37
NC_000019.8:g.45594199T>C	NCBI36
NG_007979.1:g.21913A>G , LRG_265:g.21913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1900A>G MANE Select	ENSP00000326018.6:p.Met634Val
ENST00000673881.1:c.1483A>G	ENSP00000501070.1:p.Met495Val
ENST00000674005.2:c.2185A>G	ENSP00000501261.1:p.Met729Val
ENST00000674773.1:c.1483A>G	ENSP00000502579.1:p.Met495Val
ENST00000675517.1:c.1775A>G
ENST00000676076.1:c.1761A>G
ENST00000676260.1:c.1862A>G
ENST00000676316.1:c.1787A>G
ENST00000291825.11:c.*2105A>G	ENSP00000291825.6:n.*2105A>G
ENST00000324001.7:c.1900A>G	ENSP00000326018.6:p.Met634Val
NM_020956.2:c.*2105A>G , LRG_265t1:c.*2105A>G	NP_066007.1:n.*2105A>G
NM_181882.2:c.1900A>G , LRG_265t2:c.1900A>G	NP_870998.2:p.Met634Val
XM_011527171.1:c.1900A>G	XP_011525473.1:p.Met634Val
XM_011527171.2:c.1900A>G	XP_011525473.1:p.Met634Val
XM_017027046.1:c.1798A>G	XP_016882535.1:p.Met600Val
XM_017027047.1:c.1798A>G	XP_016882536.1:p.Met600Val
NM_181882.3:c.1900A>G MANE Select	NP_870998.2:p.Met634Val