Canonical Allele Identifier: CA507679393

Gene: PRX

Linked Data

• gnomAD v4: 19-40396180-G-A
• MyVariant Identifiers: chr19:g.40902087G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396180G>A , CM000681.2:g.40396180G>A	GRCh38
NC_000019.9:g.40902087G>A , CM000681.1:g.40902087G>A	GRCh37
NC_000019.8:g.45593927G>A	NCBI36
NG_007979.1:g.22185C>T , LRG_265:g.22185C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2172C>T MANE Select	ENSP00000326018.6:p.Leu724=
ENST00000673881.1:c.1755C>T	ENSP00000501070.1:p.Leu585=
ENST00000674005.2:c.2457C>T	ENSP00000501261.1:p.Leu819=
ENST00000674773.1:c.1755C>T	ENSP00000502579.1:p.Leu585=
ENST00000675517.1:c.2047C>T
ENST00000676076.1:c.2033C>T
ENST00000676260.1:c.2134C>T
ENST00000676316.1:c.2059C>T
ENST00000291825.11:c.*2377C>T	ENSP00000291825.6:n.*2377C>T
ENST00000324001.7:c.2172C>T	ENSP00000326018.6:p.Leu724=
NM_020956.2:c.*2377C>T , LRG_265t1:c.*2377C>T	NP_066007.1:n.*2377C>T
NM_181882.2:c.2172C>T , LRG_265t2:c.2172C>T	NP_870998.2:p.Leu724=
XM_011527171.1:c.2172C>T	XP_011525473.1:p.Leu724=
XM_011527171.2:c.2172C>T	XP_011525473.1:p.Leu724=
XM_017027046.1:c.2070C>T	XP_016882535.1:p.Leu690=
XM_017027047.1:c.2070C>T	XP_016882536.1:p.Leu690=
NM_181882.3:c.2172C>T MANE Select	NP_870998.2:p.Leu724=