Canonical Allele Identifier: CA405896912

Gene: PRX

Linked Data

• dbSNP Id: rs1460763870
• gnomAD v4: 19-40396208-C-T
• MyVariant Identifiers: chr19:g.40902115C>T (hg19) ; chr19:g.40396208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396208C>T , CM000681.2:g.40396208C>T	GRCh38
NC_000019.9:g.40902115C>T , CM000681.1:g.40902115C>T	GRCh37
NC_000019.8:g.45593955C>T	NCBI36
NG_007979.1:g.22157G>A , LRG_265:g.22157G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2144G>A MANE Select	ENSP00000326018.6:p.Cys715Tyr
ENST00000673881.1:c.1727G>A	ENSP00000501070.1:p.Cys576Tyr
ENST00000674005.2:c.2429G>A	ENSP00000501261.1:p.Cys810Tyr
ENST00000674773.1:c.1727G>A	ENSP00000502579.1:p.Cys576Tyr
ENST00000675517.1:c.2019G>A
ENST00000676076.1:c.2005G>A
ENST00000676260.1:c.2106G>A
ENST00000676316.1:c.2031G>A
ENST00000291825.11:c.*2349G>A	ENSP00000291825.6:n.*2349G>A
ENST00000324001.7:c.2144G>A	ENSP00000326018.6:p.Cys715Tyr
NM_020956.2:c.*2349G>A , LRG_265t1:c.*2349G>A	NP_066007.1:n.*2349G>A
NM_181882.2:c.2144G>A , LRG_265t2:c.2144G>A	NP_870998.2:p.Cys715Tyr
XM_011527171.1:c.2144G>A	XP_011525473.1:p.Cys715Tyr
XM_011527171.2:c.2144G>A	XP_011525473.1:p.Cys715Tyr
XM_017027046.1:c.2042G>A	XP_016882535.1:p.Cys681Tyr
XM_017027047.1:c.2042G>A	XP_016882536.1:p.Cys681Tyr
NM_181882.3:c.2144G>A MANE Select	NP_870998.2:p.Cys715Tyr