Canonical Allele Identifier: CA9444312

Gene: PRX

Linked Data

• dbSNP Id: rs762784589
• ExAC: 19:40903088 G / A
• gnomAD v2: 19-40903088-G-A
• gnomAD v4: 19-40397181-G-A
• MyVariant Identifiers: chr19:g.40903088G>A (hg19) ; chr19:g.40397181G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397181G>A , CM000681.2:g.40397181G>A	GRCh38
NC_000019.9:g.40903088G>A , CM000681.1:g.40903088G>A	GRCh37
NC_000019.8:g.45594928G>A	NCBI36
NG_007979.1:g.21184C>T , LRG_265:g.21184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1171C>T MANE Select	ENSP00000326018.6:p.Leu391Phe
ENST00000673881.1:c.754C>T	ENSP00000501070.1:p.Leu252Phe
ENST00000674005.2:c.1456C>T	ENSP00000501261.1:p.Leu486Phe
ENST00000674773.1:c.754C>T	ENSP00000502579.1:p.Leu252Phe
ENST00000675517.1:c.1046C>T
ENST00000676076.1:c.1032C>T
ENST00000676260.1:c.1133C>T
ENST00000676316.1:c.1058C>T
ENST00000291825.11:c.*1376C>T	ENSP00000291825.6:n.*1376C>T
ENST00000324001.7:c.1171C>T	ENSP00000326018.6:p.Leu391Phe
NM_020956.2:c.*1376C>T , LRG_265t1:c.*1376C>T	NP_066007.1:n.*1376C>T
NM_181882.2:c.1171C>T , LRG_265t2:c.1171C>T	NP_870998.2:p.Leu391Phe
XM_011527171.1:c.1171C>T	XP_011525473.1:p.Leu391Phe
XM_011527171.2:c.1171C>T	XP_011525473.1:p.Leu391Phe
XM_017027046.1:c.1069C>T	XP_016882535.1:p.Leu357Phe
XM_017027047.1:c.1069C>T	XP_016882536.1:p.Leu357Phe
NM_181882.3:c.1171C>T MANE Select	NP_870998.2:p.Leu391Phe