Canonical Allele Identifier: CA405898945

Gene: PRX

Linked Data

• dbSNP Id: rs2079447986
• gnomAD v3: 19-40397187-G-A
• gnomAD v4: 19-40397187-G-A
• MyVariant Identifiers: chr19:g.40903094G>A (hg19) ; chr19:g.40397187G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397187G>A , CM000681.2:g.40397187G>A	GRCh38
NC_000019.9:g.40903094G>A , CM000681.1:g.40903094G>A	GRCh37
NC_000019.8:g.45594934G>A	NCBI36
NG_007979.1:g.21178C>T , LRG_265:g.21178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1165C>T MANE Select	ENSP00000326018.6:p.Pro389Ser
ENST00000673881.1:c.748C>T	ENSP00000501070.1:p.Pro250Ser
ENST00000674005.2:c.1450C>T	ENSP00000501261.1:p.Pro484Ser
ENST00000674773.1:c.748C>T	ENSP00000502579.1:p.Pro250Ser
ENST00000675517.1:c.1040C>T
ENST00000676076.1:c.1026C>T
ENST00000676260.1:c.1127C>T
ENST00000676316.1:c.1052C>T
ENST00000291825.11:c.*1370C>T	ENSP00000291825.6:n.*1370C>T
ENST00000324001.7:c.1165C>T	ENSP00000326018.6:p.Pro389Ser
NM_020956.2:c.*1370C>T , LRG_265t1:c.*1370C>T	NP_066007.1:n.*1370C>T
NM_181882.2:c.1165C>T , LRG_265t2:c.1165C>T	NP_870998.2:p.Pro389Ser
XM_011527171.1:c.1165C>T	XP_011525473.1:p.Pro389Ser
XM_011527171.2:c.1165C>T	XP_011525473.1:p.Pro389Ser
XM_017027046.1:c.1063C>T	XP_016882535.1:p.Pro355Ser
XM_017027047.1:c.1063C>T	XP_016882536.1:p.Pro355Ser
NM_181882.3:c.1165C>T MANE Select	NP_870998.2:p.Pro389Ser