Canonical Allele Identifier: CA9444072

Gene: PRX

Linked Data

• dbSNP Id: rs565407328
• ExAC: 19:40901939 C / A
• gnomAD v2: 19-40901939-C-A
• gnomAD v3: 19-40396032-C-A
• gnomAD v4: 19-40396032-C-A
• MyVariant Identifiers: chr19:g.40901939C>A (hg19) ; chr19:g.40396032C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396032C>A , CM000681.2:g.40396032C>A	GRCh38
NC_000019.9:g.40901939C>A , CM000681.1:g.40901939C>A	GRCh37
NC_000019.8:g.45593779C>A	NCBI36
NG_007979.1:g.22333G>T , LRG_265:g.22333G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2320G>T MANE Select	ENSP00000326018.6:p.Val774Leu
ENST00000673881.1:c.1903G>T	ENSP00000501070.1:p.Val635Leu
ENST00000674005.2:c.2605G>T	ENSP00000501261.1:p.Val869Leu
ENST00000674773.1:c.1903G>T	ENSP00000502579.1:p.Val635Leu
ENST00000675517.1:c.2195G>T
ENST00000676076.1:c.2181G>T
ENST00000676260.1:c.2282G>T
ENST00000676316.1:c.2207G>T
ENST00000291825.11:c.*2525G>T	ENSP00000291825.6:n.*2525G>T
ENST00000324001.7:c.2320G>T	ENSP00000326018.6:p.Val774Leu
NM_020956.2:c.*2525G>T , LRG_265t1:c.*2525G>T	NP_066007.1:n.*2525G>T
NM_181882.2:c.2320G>T , LRG_265t2:c.2320G>T	NP_870998.2:p.Val774Leu
XM_011527171.1:c.2320G>T	XP_011525473.1:p.Val774Leu
XM_011527171.2:c.2320G>T	XP_011525473.1:p.Val774Leu
XM_017027046.1:c.2218G>T	XP_016882535.1:p.Val740Leu
XM_017027047.1:c.2218G>T	XP_016882536.1:p.Val740Leu
NM_181882.3:c.2320G>T MANE Select	NP_870998.2:p.Val774Leu