Canonical Allele Identifier: CA405897134

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40902220A>T (hg19) ; chr19:g.40396313A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396313A>T , CM000681.2:g.40396313A>T	GRCh38
NC_000019.9:g.40902220A>T , CM000681.1:g.40902220A>T	GRCh37
NC_000019.8:g.45594060A>T	NCBI36
NG_007979.1:g.22052T>A , LRG_265:g.22052T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2039T>A MANE Select	ENSP00000326018.6:p.Leu680His
ENST00000673881.1:c.1622T>A	ENSP00000501070.1:p.Leu541His
ENST00000674005.2:c.2324T>A	ENSP00000501261.1:p.Leu775His
ENST00000674773.1:c.1622T>A	ENSP00000502579.1:p.Leu541His
ENST00000675517.1:c.1914T>A
ENST00000676076.1:c.1900T>A
ENST00000676260.1:c.2001T>A
ENST00000676316.1:c.1926T>A
ENST00000291825.11:c.*2244T>A	ENSP00000291825.6:n.*2244T>A
ENST00000324001.7:c.2039T>A	ENSP00000326018.6:p.Leu680His
NM_020956.2:c.*2244T>A , LRG_265t1:c.*2244T>A	NP_066007.1:n.*2244T>A
NM_181882.2:c.2039T>A , LRG_265t2:c.2039T>A	NP_870998.2:p.Leu680His
XM_011527171.1:c.2039T>A	XP_011525473.1:p.Leu680His
XM_011527171.2:c.2039T>A	XP_011525473.1:p.Leu680His
XM_017027046.1:c.1937T>A	XP_016882535.1:p.Leu646His
XM_017027047.1:c.1937T>A	XP_016882536.1:p.Leu646His
NM_181882.3:c.2039T>A MANE Select	NP_870998.2:p.Leu680His