Canonical Allele Identifier: CA405899021

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40903130C>G (hg19) ; chr19:g.40397223C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397223C>G , CM000681.2:g.40397223C>G	GRCh38
NC_000019.9:g.40903130C>G , CM000681.1:g.40903130C>G	GRCh37
NC_000019.8:g.45594970C>G	NCBI36
NG_007979.1:g.21142G>C , LRG_265:g.21142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1129G>C MANE Select	ENSP00000326018.6:p.Val377Leu
ENST00000673881.1:c.712G>C	ENSP00000501070.1:p.Val238Leu
ENST00000674005.2:c.1414G>C	ENSP00000501261.1:p.Val472Leu
ENST00000674773.1:c.712G>C	ENSP00000502579.1:p.Val238Leu
ENST00000675517.1:c.1004G>C
ENST00000676076.1:c.990G>C
ENST00000676260.1:c.1091G>C
ENST00000676316.1:c.1016G>C
ENST00000291825.11:c.*1334G>C	ENSP00000291825.6:n.*1334G>C
ENST00000324001.7:c.1129G>C	ENSP00000326018.6:p.Val377Leu
NM_020956.2:c.*1334G>C , LRG_265t1:c.*1334G>C	NP_066007.1:n.*1334G>C
NM_181882.2:c.1129G>C , LRG_265t2:c.1129G>C	NP_870998.2:p.Val377Leu
XM_011527171.1:c.1129G>C	XP_011525473.1:p.Val377Leu
XM_011527171.2:c.1129G>C	XP_011525473.1:p.Val377Leu
XM_017027046.1:c.1027G>C	XP_016882535.1:p.Val343Leu
XM_017027047.1:c.1027G>C	XP_016882536.1:p.Val343Leu
NM_181882.3:c.1129G>C MANE Select	NP_870998.2:p.Val377Leu