Canonical Allele Identifier: CA405896919

Gene: PRX

Linked Data

• dbSNP Id: rs2079434052
• gnomAD v4: 19-40396211-A-G
• MyVariant Identifiers: chr19:g.40902118A>G (hg19) ; chr19:g.40396211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396211A>G , CM000681.2:g.40396211A>G	GRCh38
NC_000019.9:g.40902118A>G , CM000681.1:g.40902118A>G	GRCh37
NC_000019.8:g.45593958A>G	NCBI36
NG_007979.1:g.22154T>C , LRG_265:g.22154T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2141T>C MANE Select	ENSP00000326018.6:p.Val714Ala
ENST00000673881.1:c.1724T>C	ENSP00000501070.1:p.Val575Ala
ENST00000674005.2:c.2426T>C	ENSP00000501261.1:p.Val809Ala
ENST00000674773.1:c.1724T>C	ENSP00000502579.1:p.Val575Ala
ENST00000675517.1:c.2016T>C
ENST00000676076.1:c.2002T>C
ENST00000676260.1:c.2103T>C
ENST00000676316.1:c.2028T>C
ENST00000291825.11:c.*2346T>C	ENSP00000291825.6:n.*2346T>C
ENST00000324001.7:c.2141T>C	ENSP00000326018.6:p.Val714Ala
NM_020956.2:c.*2346T>C , LRG_265t1:c.*2346T>C	NP_066007.1:n.*2346T>C
NM_181882.2:c.2141T>C , LRG_265t2:c.2141T>C	NP_870998.2:p.Val714Ala
XM_011527171.1:c.2141T>C	XP_011525473.1:p.Val714Ala
XM_011527171.2:c.2141T>C	XP_011525473.1:p.Val714Ala
XM_017027046.1:c.2039T>C	XP_016882535.1:p.Val680Ala
XM_017027047.1:c.2039T>C	XP_016882536.1:p.Val680Ala
NM_181882.3:c.2141T>C MANE Select	NP_870998.2:p.Val714Ala