Canonical Allele Identifier: CA405894010

Gene: PRX

Linked Data

• ClinVar Variation Id: 568251
• ClinVar RCV Id: RCV000688550
• dbSNP Id: rs1483705612
• gnomAD v3: 19-40394976-G-T
• gnomAD v4: 19-40394976-G-T
• MyVariant Identifiers: chr19:g.40900883G>T (hg19) ; chr19:g.40394976G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394976G>T , CM000681.2:g.40394976G>T	GRCh38
NC_000019.9:g.40900883G>T , CM000681.1:g.40900883G>T	GRCh37
NC_000019.8:g.45592723G>T	NCBI36
NG_007979.1:g.23389C>A , LRG_265:g.23389C>A
NG_051224.1:g.246C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3376C>A MANE Select	ENSP00000326018.6:p.Leu1126Met
ENST00000673881.1:c.2959C>A	ENSP00000501070.1:p.Leu987Met
ENST00000674005.2:c.3661C>A	ENSP00000501261.1:p.Leu1221Met
ENST00000674773.1:c.2959C>A	ENSP00000502579.1:p.Leu987Met
ENST00000675517.1:c.3251C>A
ENST00000676076.1:c.3237C>A
ENST00000676260.1:c.3338C>A
ENST00000676316.1:c.3263C>A
ENST00000291825.11:c.*3581C>A	ENSP00000291825.6:n.*3581C>A
ENST00000324001.7:c.3376C>A	ENSP00000326018.6:p.Leu1126Met
NM_020956.2:c.*3581C>A , LRG_265t1:c.*3581C>A	NP_066007.1:n.*3581C>A
NM_181882.2:c.3376C>A , LRG_265t2:c.3376C>A	NP_870998.2:p.Leu1126Met
XM_011527171.1:c.3376C>A	XP_011525473.1:p.Leu1126Met
XM_011527171.2:c.3376C>A	XP_011525473.1:p.Leu1126Met
XM_017027046.1:c.3274C>A	XP_016882535.1:p.Leu1092Met
XM_017027047.1:c.3274C>A	XP_016882536.1:p.Leu1092Met
NM_181882.3:c.3376C>A MANE Select	NP_870998.2:p.Leu1126Met