Canonical Allele Identifier: CA9443783

Gene: PRX

Linked Data

• ClinVar Variation Id: 382637
• ClinVar RCV Id: RCV000460920 ; RCV001173097 ; RCV001132595 ; RCV001703726
• dbSNP Id: rs146061247
• ExAC: 19:40900457 C / G
• gnomAD v2: 19-40900457-C-G
• gnomAD v3: 19-40394550-C-G
• gnomAD v4: 19-40394550-C-G
• MyVariant Identifiers: chr19:g.40900457C>G (hg19) ; chr19:g.40394550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394550C>G , CM000681.2:g.40394550C>G	GRCh38
NC_000019.9:g.40900457C>G , CM000681.1:g.40900457C>G	GRCh37
NC_000019.8:g.45592297C>G	NCBI36
NG_007979.1:g.23815G>C , LRG_265:g.23815G>C
NG_051224.1:g.672G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3802G>C MANE Select	ENSP00000326018.6:p.Ala1268Pro
ENST00000673881.1:c.3385G>C	ENSP00000501070.1:p.Ala1129Pro
ENST00000674005.2:c.4087G>C	ENSP00000501261.1:p.Ala1363Pro
ENST00000674773.1:c.3385G>C	ENSP00000502579.1:p.Ala1129Pro
ENST00000675517.1:c.3677G>C
ENST00000676076.1:c.3663G>C
ENST00000676260.1:c.3764G>C
ENST00000676316.1:c.3689G>C
ENST00000291825.11:c.*4007G>C	ENSP00000291825.6:n.*4007G>C
ENST00000324001.7:c.3802G>C	ENSP00000326018.6:p.Ala1268Pro
NM_020956.2:c.*4007G>C , LRG_265t1:c.*4007G>C	NP_066007.1:n.*4007G>C
NM_181882.2:c.3802G>C , LRG_265t2:c.3802G>C	NP_870998.2:p.Ala1268Pro
XM_011527171.1:c.3802G>C	XP_011525473.1:p.Ala1268Pro
XM_011527171.2:c.3802G>C	XP_011525473.1:p.Ala1268Pro
XM_017027046.1:c.3700G>C	XP_016882535.1:p.Ala1234Pro
XM_017027047.1:c.3700G>C	XP_016882536.1:p.Ala1234Pro
NM_181882.3:c.3802G>C MANE Select	NP_870998.2:p.Ala1268Pro