Canonical Allele Identifier: CA405896516

Gene: PRX

Linked Data

• gnomAD v4: 19-40396019-C-T
• MyVariant Identifiers: chr19:g.40901926C>T (hg19) ; chr19:g.40396019C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396019C>T , CM000681.2:g.40396019C>T	GRCh38
NC_000019.9:g.40901926C>T , CM000681.1:g.40901926C>T	GRCh37
NC_000019.8:g.45593766C>T	NCBI36
NG_007979.1:g.22346G>A , LRG_265:g.22346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2333G>A MANE Select	ENSP00000326018.6:p.Arg778Lys
ENST00000673881.1:c.1916G>A	ENSP00000501070.1:p.Arg639Lys
ENST00000674005.2:c.2618G>A	ENSP00000501261.1:p.Arg873Lys
ENST00000674773.1:c.1916G>A	ENSP00000502579.1:p.Arg639Lys
ENST00000675517.1:c.2208G>A
ENST00000676076.1:c.2194G>A
ENST00000676260.1:c.2295G>A
ENST00000676316.1:c.2220G>A
ENST00000291825.11:c.*2538G>A	ENSP00000291825.6:n.*2538G>A
ENST00000324001.7:c.2333G>A	ENSP00000326018.6:p.Arg778Lys
NM_020956.2:c.*2538G>A , LRG_265t1:c.*2538G>A	NP_066007.1:n.*2538G>A
NM_181882.2:c.2333G>A , LRG_265t2:c.2333G>A	NP_870998.2:p.Arg778Lys
XM_011527171.1:c.2333G>A	XP_011525473.1:p.Arg778Lys
XM_011527171.2:c.2333G>A	XP_011525473.1:p.Arg778Lys
XM_017027046.1:c.2231G>A	XP_016882535.1:p.Arg744Lys
XM_017027047.1:c.2231G>A	XP_016882536.1:p.Arg744Lys
NM_181882.3:c.2333G>A MANE Select	NP_870998.2:p.Arg778Lys