Canonical Allele Identifier: CA507679369

Gene: PRX

Linked Data

• dbSNP Id: rs2145728999
• gnomAD v3: 19-40396165-G-T
• gnomAD v4: 19-40396165-G-T
• MyVariant Identifiers: chr19:g.40902072G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396165G>T , CM000681.2:g.40396165G>T	GRCh38
NC_000019.9:g.40902072G>T , CM000681.1:g.40902072G>T	GRCh37
NC_000019.8:g.45593912G>T	NCBI36
NG_007979.1:g.22200C>A , LRG_265:g.22200C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2187C>A MANE Select	ENSP00000326018.6:p.Leu729=
ENST00000673881.1:c.1770C>A	ENSP00000501070.1:p.Leu590=
ENST00000674005.2:c.2472C>A	ENSP00000501261.1:p.Leu824=
ENST00000674773.1:c.1770C>A	ENSP00000502579.1:p.Leu590=
ENST00000675517.1:c.2062C>A
ENST00000676076.1:c.2048C>A
ENST00000676260.1:c.2149C>A
ENST00000676316.1:c.2074C>A
ENST00000291825.11:c.*2392C>A	ENSP00000291825.6:n.*2392C>A
ENST00000324001.7:c.2187C>A	ENSP00000326018.6:p.Leu729=
NM_020956.2:c.*2392C>A , LRG_265t1:c.*2392C>A	NP_066007.1:n.*2392C>A
NM_181882.2:c.2187C>A , LRG_265t2:c.2187C>A	NP_870998.2:p.Leu729=
XM_011527171.1:c.2187C>A	XP_011525473.1:p.Leu729=
XM_011527171.2:c.2187C>A	XP_011525473.1:p.Leu729=
XM_017027046.1:c.2085C>A	XP_016882535.1:p.Leu695=
XM_017027047.1:c.2085C>A	XP_016882536.1:p.Leu695=
NM_181882.3:c.2187C>A MANE Select	NP_870998.2:p.Leu729=