Canonical Allele Identifier: CA405896402

Gene: PRX

Linked Data

• dbSNP Id: rs2079430593
• COSMIC: COSM5389785
• MyVariant Identifiers: chr19:g.40901873C>T (hg19) ; chr19:g.40395966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395966C>T , CM000681.2:g.40395966C>T	GRCh38
NC_000019.9:g.40901873C>T , CM000681.1:g.40901873C>T	GRCh37
NC_000019.8:g.45593713C>T	NCBI36
NG_007979.1:g.22399G>A , LRG_265:g.22399G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2386G>A MANE Select	ENSP00000326018.6:p.Glu796Lys
ENST00000673881.1:c.1969G>A	ENSP00000501070.1:p.Glu657Lys
ENST00000674005.2:c.2671G>A	ENSP00000501261.1:p.Glu891Lys
ENST00000674773.1:c.1969G>A	ENSP00000502579.1:p.Glu657Lys
ENST00000675517.1:c.2261G>A
ENST00000676076.1:c.2247G>A
ENST00000676260.1:c.2348G>A
ENST00000676316.1:c.2273G>A
ENST00000291825.11:c.*2591G>A	ENSP00000291825.6:n.*2591G>A
ENST00000324001.7:c.2386G>A	ENSP00000326018.6:p.Glu796Lys
NM_020956.2:c.*2591G>A , LRG_265t1:c.*2591G>A	NP_066007.1:n.*2591G>A
NM_181882.2:c.2386G>A , LRG_265t2:c.2386G>A	NP_870998.2:p.Glu796Lys
XM_011527171.1:c.2386G>A	XP_011525473.1:p.Glu796Lys
XM_011527171.2:c.2386G>A	XP_011525473.1:p.Glu796Lys
XM_017027046.1:c.2284G>A	XP_016882535.1:p.Glu762Lys
XM_017027047.1:c.2284G>A	XP_016882536.1:p.Glu762Lys
NM_181882.3:c.2386G>A MANE Select	NP_870998.2:p.Glu796Lys