Canonical Allele Identifier: CA405889935

Gene: PRX

Linked Data

• ClinVar Variation Id: 476974
• ClinVar RCV Id: RCV000552592 ; RCV002330976
• dbSNP Id: rs754032938
• gnomAD v4: 19-40394082-C-T
• MyVariant Identifiers: chr19:g.40899989C>T (hg19) ; chr19:g.40394082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394082C>T , CM000681.2:g.40394082C>T	GRCh38
NC_000019.9:g.40899989C>T , CM000681.1:g.40899989C>T	GRCh37
NC_000019.8:g.45591829C>T	NCBI36
NG_007979.1:g.24283G>A , LRG_265:g.24283G>A
NG_051224.1:g.1140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.4270G>A MANE Select	ENSP00000326018.6:p.Gly1424Arg
ENST00000673881.1:c.3853G>A	ENSP00000501070.1:p.Gly1285Arg
ENST00000674005.2:c.4555G>A	ENSP00000501261.1:p.Gly1519Arg
ENST00000674773.1:c.3853G>A	ENSP00000502579.1:p.Gly1285Arg
ENST00000675517.1:c.4145G>A
ENST00000676076.1:c.4131G>A
ENST00000676260.1:c.4232G>A
ENST00000676316.1:c.4157G>A
ENST00000291825.11:c.*4475G>A	ENSP00000291825.6:n.*4475G>A
ENST00000324001.7:c.4270G>A	ENSP00000326018.6:p.Gly1424Arg
NM_020956.2:c.*4475G>A , LRG_265t1:c.*4475G>A	NP_066007.1:n.*4475G>A
NM_181882.2:c.4270G>A , LRG_265t2:c.4270G>A	NP_870998.2:p.Gly1424Arg
XM_011527171.1:c.4270G>A	XP_011525473.1:p.Gly1424Arg
XM_011527171.2:c.4270G>A	XP_011525473.1:p.Gly1424Arg
XM_017027046.1:c.4168G>A	XP_016882535.1:p.Gly1390Arg
XM_017027047.1:c.4168G>A	XP_016882536.1:p.Gly1390Arg
NM_181882.3:c.4270G>A MANE Select	NP_870998.2:p.Gly1424Arg