Canonical Allele Identifier: CA405897036

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40902174C>A (hg19) ; chr19:g.40396267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396267C>A , CM000681.2:g.40396267C>A	GRCh38
NC_000019.9:g.40902174C>A , CM000681.1:g.40902174C>A	GRCh37
NC_000019.8:g.45594014C>A	NCBI36
NG_007979.1:g.22098G>T , LRG_265:g.22098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2085G>T MANE Select	ENSP00000326018.6:p.Lys695Asn
ENST00000673881.1:c.1668G>T	ENSP00000501070.1:p.Lys556Asn
ENST00000674005.2:c.2370G>T	ENSP00000501261.1:p.Lys790Asn
ENST00000674773.1:c.1668G>T	ENSP00000502579.1:p.Lys556Asn
ENST00000675517.1:c.1960G>T
ENST00000676076.1:c.1946G>T
ENST00000676260.1:c.2047G>T
ENST00000676316.1:c.1972G>T
ENST00000291825.11:c.*2290G>T	ENSP00000291825.6:n.*2290G>T
ENST00000324001.7:c.2085G>T	ENSP00000326018.6:p.Lys695Asn
NM_020956.2:c.*2290G>T , LRG_265t1:c.*2290G>T	NP_066007.1:n.*2290G>T
NM_181882.2:c.2085G>T , LRG_265t2:c.2085G>T	NP_870998.2:p.Lys695Asn
XM_011527171.1:c.2085G>T	XP_011525473.1:p.Lys695Asn
XM_011527171.2:c.2085G>T	XP_011525473.1:p.Lys695Asn
XM_017027046.1:c.1983G>T	XP_016882535.1:p.Lys661Asn
XM_017027047.1:c.1983G>T	XP_016882536.1:p.Lys661Asn
NM_181882.3:c.2085G>T MANE Select	NP_870998.2:p.Lys695Asn