Canonical Allele Identifier: CA405896549

Gene: PRX

Linked Data

• ClinVar Variation Id: 2116697
• ClinVar RCV Id: RCV003024848
• dbSNP Id: rs1934293021
• gnomAD v3: 19-40396035-C-G
• gnomAD v4: 19-40396035-C-G
• COSMIC: COSM1741275
• MyVariant Identifiers: chr19:g.40901942C>G (hg19) ; chr19:g.40396035C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396035C>G , CM000681.2:g.40396035C>G	GRCh38
NC_000019.9:g.40901942C>G , CM000681.1:g.40901942C>G	GRCh37
NC_000019.8:g.45593782C>G	NCBI36
NG_007979.1:g.22330G>C , LRG_265:g.22330G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2317G>C MANE Select	ENSP00000326018.6:p.Glu773Gln
ENST00000673881.1:c.1900G>C	ENSP00000501070.1:p.Glu634Gln
ENST00000674005.2:c.2602G>C	ENSP00000501261.1:p.Glu868Gln
ENST00000674773.1:c.1900G>C	ENSP00000502579.1:p.Glu634Gln
ENST00000675517.1:c.2192G>C
ENST00000676076.1:c.2178G>C
ENST00000676260.1:c.2279G>C
ENST00000676316.1:c.2204G>C
ENST00000291825.11:c.*2522G>C	ENSP00000291825.6:n.*2522G>C
ENST00000324001.7:c.2317G>C	ENSP00000326018.6:p.Glu773Gln
NM_020956.2:c.*2522G>C , LRG_265t1:c.*2522G>C	NP_066007.1:n.*2522G>C
NM_181882.2:c.2317G>C , LRG_265t2:c.2317G>C	NP_870998.2:p.Glu773Gln
XM_011527171.1:c.2317G>C	XP_011525473.1:p.Glu773Gln
XM_011527171.2:c.2317G>C	XP_011525473.1:p.Glu773Gln
XM_017027046.1:c.2215G>C	XP_016882535.1:p.Glu739Gln
XM_017027047.1:c.2215G>C	XP_016882536.1:p.Glu739Gln
NM_181882.3:c.2317G>C MANE Select	NP_870998.2:p.Glu773Gln