Canonical Allele Identifier: CA9444114

Gene: PRX

Linked Data

• ClinVar Variation Id: 388340
• ClinVar RCV Id: RCV000811458 ; RCV001704468 ; RCV002522436 ; RCV003970203
• dbSNP Id: rs376309142
• ExAC: 19:40902095 T / C
• gnomAD v2: 19-40902095-T-C
• gnomAD v3: 19-40396188-T-C
• gnomAD v4: 19-40396188-T-C
• MyVariant Identifiers: chr19:g.40902095T>C (hg19) ; chr19:g.40396188T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396188T>C , CM000681.2:g.40396188T>C	GRCh38
NC_000019.9:g.40902095T>C , CM000681.1:g.40902095T>C	GRCh37
NC_000019.8:g.45593935T>C	NCBI36
NG_007979.1:g.22177A>G , LRG_265:g.22177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2164A>G MANE Select	ENSP00000326018.6:p.Met722Val
ENST00000673881.1:c.1747A>G	ENSP00000501070.1:p.Met583Val
ENST00000674005.2:c.2449A>G	ENSP00000501261.1:p.Met817Val
ENST00000674773.1:c.1747A>G	ENSP00000502579.1:p.Met583Val
ENST00000675517.1:c.2039A>G
ENST00000676076.1:c.2025A>G
ENST00000676260.1:c.2126A>G
ENST00000676316.1:c.2051A>G
ENST00000291825.11:c.*2369A>G	ENSP00000291825.6:n.*2369A>G
ENST00000324001.7:c.2164A>G	ENSP00000326018.6:p.Met722Val
NM_020956.2:c.*2369A>G , LRG_265t1:c.*2369A>G	NP_066007.1:n.*2369A>G
NM_181882.2:c.2164A>G , LRG_265t2:c.2164A>G	NP_870998.2:p.Met722Val
XM_011527171.1:c.2164A>G	XP_011525473.1:p.Met722Val
XM_011527171.2:c.2164A>G	XP_011525473.1:p.Met722Val
XM_017027046.1:c.2062A>G	XP_016882535.1:p.Met688Val
XM_017027047.1:c.2062A>G	XP_016882536.1:p.Met688Val
NM_181882.3:c.2164A>G MANE Select	NP_870998.2:p.Met722Val