Canonical Allele Identifier: CA9444337

Gene: PRX

Linked Data

• ClinVar Variation Id: 476947
• ClinVar RCV Id: RCV000538244 ; RCV001129237 ; RCV002384260
• dbSNP Id: rs150772010
• ExAC: 19:40903233 T / G
• gnomAD v2: 19-40903233-T-G
• gnomAD v3: 19-40397326-T-G
• gnomAD v4: 19-40397326-T-G
• MyVariant Identifiers: chr19:g.40903233T>G (hg19) ; chr19:g.40397326T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40397326T>G , CM000681.2:g.40397326T>G	GRCh38
NC_000019.9:g.40903233T>G , CM000681.1:g.40903233T>G	GRCh37
NC_000019.8:g.45595073T>G	NCBI36
NG_007979.1:g.21039A>C , LRG_265:g.21039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.1026A>C MANE Select	ENSP00000326018.6:p.Ala342=
ENST00000673881.1:c.609A>C	ENSP00000501070.1:p.Ala203=
ENST00000674005.2:c.1311A>C	ENSP00000501261.1:p.Ala437=
ENST00000674773.1:c.609A>C	ENSP00000502579.1:p.Ala203=
ENST00000675517.1:c.901A>C
ENST00000676076.1:c.887A>C
ENST00000676260.1:c.988A>C
ENST00000676316.1:c.913A>C
ENST00000291825.11:c.*1231A>C	ENSP00000291825.6:n.*1231A>C
ENST00000324001.7:c.1026A>C	ENSP00000326018.6:p.Ala342=
NM_020956.2:c.*1231A>C , LRG_265t1:c.*1231A>C	NP_066007.1:n.*1231A>C
NM_181882.2:c.1026A>C , LRG_265t2:c.1026A>C	NP_870998.2:p.Ala342=
XM_011527171.1:c.1026A>C	XP_011525473.1:p.Ala342=
XM_011527171.2:c.1026A>C	XP_011525473.1:p.Ala342=
XM_017027046.1:c.924A>C	XP_016882535.1:p.Ala308=
XM_017027047.1:c.924A>C	XP_016882536.1:p.Ala308=
NM_181882.3:c.1026A>C MANE Select	NP_870998.2:p.Ala342=