Canonical Allele Identifier: CA507679529

Gene: PRX

Linked Data

• dbSNP Id: rs1599653593
• gnomAD v3: 19-40396282-C-T
• gnomAD v4: 19-40396282-C-T
• MyVariant Identifiers: chr19:g.40902189C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396282C>T , CM000681.2:g.40396282C>T	GRCh38
NC_000019.9:g.40902189C>T , CM000681.1:g.40902189C>T	GRCh37
NC_000019.8:g.45594029C>T	NCBI36
NG_007979.1:g.22083G>A , LRG_265:g.22083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2070G>A MANE Select	ENSP00000326018.6:p.Glu690=
ENST00000673881.1:c.1653G>A	ENSP00000501070.1:p.Glu551=
ENST00000674005.2:c.2355G>A	ENSP00000501261.1:p.Glu785=
ENST00000674773.1:c.1653G>A	ENSP00000502579.1:p.Glu551=
ENST00000675517.1:c.1945G>A
ENST00000676076.1:c.1931G>A
ENST00000676260.1:c.2032G>A
ENST00000676316.1:c.1957G>A
ENST00000291825.11:c.*2275G>A	ENSP00000291825.6:n.*2275G>A
ENST00000324001.7:c.2070G>A	ENSP00000326018.6:p.Glu690=
NM_020956.2:c.*2275G>A , LRG_265t1:c.*2275G>A	NP_066007.1:n.*2275G>A
NM_181882.2:c.2070G>A , LRG_265t2:c.2070G>A	NP_870998.2:p.Glu690=
XM_011527171.1:c.2070G>A	XP_011525473.1:p.Glu690=
XM_011527171.2:c.2070G>A	XP_011525473.1:p.Glu690=
XM_017027046.1:c.1968G>A	XP_016882535.1:p.Glu656=
XM_017027047.1:c.1968G>A	XP_016882536.1:p.Glu656=
NM_181882.3:c.2070G>A MANE Select	NP_870998.2:p.Glu690=