Canonical Allele Identifier: CA507679562

Gene: PRX

Linked Data

• ClinVar Variation Id: 1115626
• ClinVar RCV Id: RCV001443721
• dbSNP Id: rs2145729366
• MyVariant Identifiers: chr19:g.40902222T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396315T>A , CM000681.2:g.40396315T>A	GRCh38
NC_000019.9:g.40902222T>A , CM000681.1:g.40902222T>A	GRCh37
NC_000019.8:g.45594062T>A	NCBI36
NG_007979.1:g.22050A>T , LRG_265:g.22050A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2037A>T MANE Select	ENSP00000326018.6:p.Arg679=
ENST00000673881.1:c.1620A>T	ENSP00000501070.1:p.Arg540=
ENST00000674005.2:c.2322A>T	ENSP00000501261.1:p.Arg774=
ENST00000674773.1:c.1620A>T	ENSP00000502579.1:p.Arg540=
ENST00000675517.1:c.1912A>T
ENST00000676076.1:c.1898A>T
ENST00000676260.1:c.1999A>T
ENST00000676316.1:c.1924A>T
ENST00000291825.11:c.*2242A>T	ENSP00000291825.6:n.*2242A>T
ENST00000324001.7:c.2037A>T	ENSP00000326018.6:p.Arg679=
NM_020956.2:c.*2242A>T , LRG_265t1:c.*2242A>T	NP_066007.1:n.*2242A>T
NM_181882.2:c.2037A>T , LRG_265t2:c.2037A>T	NP_870998.2:p.Arg679=
XM_011527171.1:c.2037A>T	XP_011525473.1:p.Arg679=
XM_011527171.2:c.2037A>T	XP_011525473.1:p.Arg679=
XM_017027046.1:c.1935A>T	XP_016882535.1:p.Arg645=
XM_017027047.1:c.1935A>T	XP_016882536.1:p.Arg645=
NM_181882.3:c.2037A>T MANE Select	NP_870998.2:p.Arg679=