Canonical Allele Identifier: CA405896849

Gene: PRX

Linked Data

• gnomAD v4: 19-40396182-G-C
• MyVariant Identifiers: chr19:g.40902089G>C (hg19) ; chr19:g.40396182G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396182G>C , CM000681.2:g.40396182G>C	GRCh38
NC_000019.9:g.40902089G>C , CM000681.1:g.40902089G>C	GRCh37
NC_000019.8:g.45593929G>C	NCBI36
NG_007979.1:g.22183C>G , LRG_265:g.22183C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2170C>G MANE Select	ENSP00000326018.6:p.Leu724Val
ENST00000673881.1:c.1753C>G	ENSP00000501070.1:p.Leu585Val
ENST00000674005.2:c.2455C>G	ENSP00000501261.1:p.Leu819Val
ENST00000674773.1:c.1753C>G	ENSP00000502579.1:p.Leu585Val
ENST00000675517.1:c.2045C>G
ENST00000676076.1:c.2031C>G
ENST00000676260.1:c.2132C>G
ENST00000676316.1:c.2057C>G
ENST00000291825.11:c.*2375C>G	ENSP00000291825.6:n.*2375C>G
ENST00000324001.7:c.2170C>G	ENSP00000326018.6:p.Leu724Val
NM_020956.2:c.*2375C>G , LRG_265t1:c.*2375C>G	NP_066007.1:n.*2375C>G
NM_181882.2:c.2170C>G , LRG_265t2:c.2170C>G	NP_870998.2:p.Leu724Val
XM_011527171.1:c.2170C>G	XP_011525473.1:p.Leu724Val
XM_011527171.2:c.2170C>G	XP_011525473.1:p.Leu724Val
XM_017027046.1:c.2068C>G	XP_016882535.1:p.Leu690Val
XM_017027047.1:c.2068C>G	XP_016882536.1:p.Leu690Val
NM_181882.3:c.2170C>G MANE Select	NP_870998.2:p.Leu724Val