Canonical Allele Identifier: CA9443878

Gene: PRX

Linked Data

• ClinVar Variation Id: 1608060
• ClinVar RCV Id: RCV002145049
• dbSNP Id: rs779789272
• ExAC: 19:40900923 T / C
• gnomAD v2: 19-40900923-T-C
• gnomAD v4: 19-40395016-T-C
• MyVariant Identifiers: chr19:g.40900923T>C (hg19) ; chr19:g.40395016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395016T>C , CM000681.2:g.40395016T>C	GRCh38
NC_000019.9:g.40900923T>C , CM000681.1:g.40900923T>C	GRCh37
NC_000019.8:g.45592763T>C	NCBI36
NG_007979.1:g.23349A>G , LRG_265:g.23349A>G
NG_051224.1:g.206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3336A>G MANE Select	ENSP00000326018.6:p.Ala1112=
ENST00000673881.1:c.2919A>G	ENSP00000501070.1:p.Ala973=
ENST00000674005.2:c.3621A>G	ENSP00000501261.1:p.Ala1207=
ENST00000674773.1:c.2919A>G	ENSP00000502579.1:p.Ala973=
ENST00000675517.1:c.3211A>G
ENST00000676076.1:c.3197A>G
ENST00000676260.1:c.3298A>G
ENST00000676316.1:c.3223A>G
ENST00000291825.11:c.*3541A>G	ENSP00000291825.6:n.*3541A>G
ENST00000324001.7:c.3336A>G	ENSP00000326018.6:p.Ala1112=
NM_020956.2:c.*3541A>G , LRG_265t1:c.*3541A>G	NP_066007.1:n.*3541A>G
NM_181882.2:c.3336A>G , LRG_265t2:c.3336A>G	NP_870998.2:p.Ala1112=
XM_011527171.1:c.3336A>G	XP_011525473.1:p.Ala1112=
XM_011527171.2:c.3336A>G	XP_011525473.1:p.Ala1112=
XM_017027046.1:c.3234A>G	XP_016882535.1:p.Ala1078=
XM_017027047.1:c.3234A>G	XP_016882536.1:p.Ala1078=
NM_181882.3:c.3336A>G MANE Select	NP_870998.2:p.Ala1112=