Canonical Allele Identifier: CA405897070

Gene: PRX

Linked Data

• dbSNP Id: rs1599653593
• gnomAD v3: 19-40396282-C-G
• gnomAD v4: 19-40396282-C-G
• MyVariant Identifiers: chr19:g.40902189C>G (hg19) ; chr19:g.40396282C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396282C>G , CM000681.2:g.40396282C>G	GRCh38
NC_000019.9:g.40902189C>G , CM000681.1:g.40902189C>G	GRCh37
NC_000019.8:g.45594029C>G	NCBI36
NG_007979.1:g.22083G>C , LRG_265:g.22083G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2070G>C MANE Select	ENSP00000326018.6:p.Glu690Asp
ENST00000673881.1:c.1653G>C	ENSP00000501070.1:p.Glu551Asp
ENST00000674005.2:c.2355G>C	ENSP00000501261.1:p.Glu785Asp
ENST00000674773.1:c.1653G>C	ENSP00000502579.1:p.Glu551Asp
ENST00000675517.1:c.1945G>C
ENST00000676076.1:c.1931G>C
ENST00000676260.1:c.2032G>C
ENST00000676316.1:c.1957G>C
ENST00000291825.11:c.*2275G>C	ENSP00000291825.6:n.*2275G>C
ENST00000324001.7:c.2070G>C	ENSP00000326018.6:p.Glu690Asp
NM_020956.2:c.*2275G>C , LRG_265t1:c.*2275G>C	NP_066007.1:n.*2275G>C
NM_181882.2:c.2070G>C , LRG_265t2:c.2070G>C	NP_870998.2:p.Glu690Asp
XM_011527171.1:c.2070G>C	XP_011525473.1:p.Glu690Asp
XM_011527171.2:c.2070G>C	XP_011525473.1:p.Glu690Asp
XM_017027046.1:c.1968G>C	XP_016882535.1:p.Glu656Asp
XM_017027047.1:c.1968G>C	XP_016882536.1:p.Glu656Asp
NM_181882.3:c.2070G>C MANE Select	NP_870998.2:p.Glu690Asp