Canonical Allele Identifier: CA9444045

Gene: PRX

Linked Data

• ClinVar Variation Id: 380125
• ClinVar RCV Id: RCV000687713 ; RCV001720038 ; RCV002429375
• dbSNP Id: rs116139153
• ExAC: 19:40901765 C / G
• gnomAD v2: 19-40901765-C-G
• gnomAD v3: 19-40395858-C-G
• gnomAD v4: 19-40395858-C-G
• MyVariant Identifiers: chr19:g.40901765C>G (hg19) ; chr19:g.40395858C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395858C>G , CM000681.2:g.40395858C>G	GRCh38
NC_000019.9:g.40901765C>G , CM000681.1:g.40901765C>G	GRCh37
NC_000019.8:g.45593605C>G	NCBI36
NG_007979.1:g.22507G>C , LRG_265:g.22507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2494G>C MANE Select	ENSP00000326018.6:p.Val832Leu
ENST00000673881.1:c.2077G>C	ENSP00000501070.1:p.Val693Leu
ENST00000674005.2:c.2779G>C	ENSP00000501261.1:p.Val927Leu
ENST00000674773.1:c.2077G>C	ENSP00000502579.1:p.Val693Leu
ENST00000675517.1:c.2369G>C
ENST00000676076.1:c.2355G>C
ENST00000676260.1:c.2456G>C
ENST00000676316.1:c.2381G>C
ENST00000291825.11:c.*2699G>C	ENSP00000291825.6:n.*2699G>C
ENST00000324001.7:c.2494G>C	ENSP00000326018.6:p.Val832Leu
NM_020956.2:c.*2699G>C , LRG_265t1:c.*2699G>C	NP_066007.1:n.*2699G>C
NM_181882.2:c.2494G>C , LRG_265t2:c.2494G>C	NP_870998.2:p.Val832Leu
XM_011527171.1:c.2494G>C	XP_011525473.1:p.Val832Leu
XM_011527171.2:c.2494G>C	XP_011525473.1:p.Val832Leu
XM_017027046.1:c.2392G>C	XP_016882535.1:p.Val798Leu
XM_017027047.1:c.2392G>C	XP_016882536.1:p.Val798Leu
NM_181882.3:c.2494G>C MANE Select	NP_870998.2:p.Val832Leu