Canonical Allele Identifier: CA9443767

Gene: PRX

Linked Data

• ClinVar Variation Id: 329253
• ClinVar RCV Id: RCV001094579 ; RCV000516225 ; RCV000534799 ; RCV001172786 ; RCV002365390 ; RCV001706523
• dbSNP Id: rs143289108
• ExAC: 19:40900413 C / T
• gnomAD v2: 19-40900413-C-T
• gnomAD v3: 19-40394506-C-T
• gnomAD v4: 19-40394506-C-T
• MyVariant Identifiers: chr19:g.40900413C>T (hg19) ; chr19:g.40394506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394506C>T , CM000681.2:g.40394506C>T	GRCh38
NC_000019.9:g.40900413C>T , CM000681.1:g.40900413C>T	GRCh37
NC_000019.8:g.45592253C>T	NCBI36
NG_007979.1:g.23859G>A , LRG_265:g.23859G>A
NG_051224.1:g.716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3846G>A MANE Select	ENSP00000326018.6:p.Ser1282=
ENST00000673881.1:c.3429G>A	ENSP00000501070.1:p.Ser1143=
ENST00000674005.2:c.4131G>A	ENSP00000501261.1:p.Ser1377=
ENST00000674773.1:c.3429G>A	ENSP00000502579.1:p.Ser1143=
ENST00000675517.1:c.3721G>A
ENST00000676076.1:c.3707G>A
ENST00000676260.1:c.3808G>A
ENST00000676316.1:c.3733G>A
ENST00000291825.11:c.*4051G>A	ENSP00000291825.6:n.*4051G>A
ENST00000324001.7:c.3846G>A	ENSP00000326018.6:p.Ser1282=
NM_020956.2:c.*4051G>A , LRG_265t1:c.*4051G>A	NP_066007.1:n.*4051G>A
NM_181882.2:c.3846G>A , LRG_265t2:c.3846G>A	NP_870998.2:p.Ser1282=
XM_011527171.1:c.3846G>A	XP_011525473.1:p.Ser1282=
XM_011527171.2:c.3846G>A	XP_011525473.1:p.Ser1282=
XM_017027046.1:c.3744G>A	XP_016882535.1:p.Ser1248=
XM_017027047.1:c.3744G>A	XP_016882536.1:p.Ser1248=
NM_181882.3:c.3846G>A MANE Select	NP_870998.2:p.Ser1282=