Canonical Allele Identifier: CA9443770

Gene: PRX

Linked Data

• ClinVar Variation Id: 543486
• ClinVar RCV Id: RCV000654259 ; RCV001811430 ; RCV003945683 ; RCV002358894
• dbSNP Id: rs146205352
• ExAC: 19:40900421 C / G
• gnomAD v2: 19-40900421-C-G
• gnomAD v3: 19-40394514-C-G
• gnomAD v4: 19-40394514-C-G
• MyVariant Identifiers: chr19:g.40900421C>G (hg19) ; chr19:g.40394514C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394514C>G , CM000681.2:g.40394514C>G	GRCh38
NC_000019.9:g.40900421C>G , CM000681.1:g.40900421C>G	GRCh37
NC_000019.8:g.45592261C>G	NCBI36
NG_007979.1:g.23851G>C , LRG_265:g.23851G>C
NG_051224.1:g.708G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3838G>C MANE Select	ENSP00000326018.6:p.Glu1280Gln
ENST00000673881.1:c.3421G>C	ENSP00000501070.1:p.Glu1141Gln
ENST00000674005.2:c.4123G>C	ENSP00000501261.1:p.Glu1375Gln
ENST00000674773.1:c.3421G>C	ENSP00000502579.1:p.Glu1141Gln
ENST00000675517.1:c.3713G>C
ENST00000676076.1:c.3699G>C
ENST00000676260.1:c.3800G>C
ENST00000676316.1:c.3725G>C
ENST00000291825.11:c.*4043G>C	ENSP00000291825.6:n.*4043G>C
ENST00000324001.7:c.3838G>C	ENSP00000326018.6:p.Glu1280Gln
NM_020956.2:c.*4043G>C , LRG_265t1:c.*4043G>C	NP_066007.1:n.*4043G>C
NM_181882.2:c.3838G>C , LRG_265t2:c.3838G>C	NP_870998.2:p.Glu1280Gln
XM_011527171.1:c.3838G>C	XP_011525473.1:p.Glu1280Gln
XM_011527171.2:c.3838G>C	XP_011525473.1:p.Glu1280Gln
XM_017027046.1:c.3736G>C	XP_016882535.1:p.Glu1246Gln
XM_017027047.1:c.3736G>C	XP_016882536.1:p.Glu1246Gln
NM_181882.3:c.3838G>C MANE Select	NP_870998.2:p.Glu1280Gln