Canonical Allele Identifier: CA9443803

Gene: PRX

Linked Data

• ClinVar Variation Id: 476966
• ClinVar RCV Id: RCV000531906 ; RCV000615828 ; RCV001135978 ; RCV001173093 ; RCV001811071 ; RCV002358617
• dbSNP Id: rs202119177
• ExAC: 19:40900551 C / T
• gnomAD v2: 19-40900551-C-T
• gnomAD v3: 19-40394644-C-T
• gnomAD v4: 19-40394644-C-T
• MyVariant Identifiers: chr19:g.40900551C>T (hg19) ; chr19:g.40394644C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394644C>T , CM000681.2:g.40394644C>T	GRCh38
NC_000019.9:g.40900551C>T , CM000681.1:g.40900551C>T	GRCh37
NC_000019.8:g.45592391C>T	NCBI36
NG_007979.1:g.23721G>A , LRG_265:g.23721G>A
NG_051224.1:g.578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3708G>A MANE Select	ENSP00000326018.6:p.Ala1236=
ENST00000673881.1:c.3291G>A	ENSP00000501070.1:p.Ala1097=
ENST00000674005.2:c.3993G>A	ENSP00000501261.1:p.Ala1331=
ENST00000674773.1:c.3291G>A	ENSP00000502579.1:p.Ala1097=
ENST00000675517.1:c.3583G>A
ENST00000676076.1:c.3569G>A
ENST00000676260.1:c.3670G>A
ENST00000676316.1:c.3595G>A
ENST00000291825.11:c.*3913G>A	ENSP00000291825.6:n.*3913G>A
ENST00000324001.7:c.3708G>A	ENSP00000326018.6:p.Ala1236=
NM_020956.2:c.*3913G>A , LRG_265t1:c.*3913G>A	NP_066007.1:n.*3913G>A
NM_181882.2:c.3708G>A , LRG_265t2:c.3708G>A	NP_870998.2:p.Ala1236=
XM_011527171.1:c.3708G>A	XP_011525473.1:p.Ala1236=
XM_011527171.2:c.3708G>A	XP_011525473.1:p.Ala1236=
XM_017027046.1:c.3606G>A	XP_016882535.1:p.Ala1202=
XM_017027047.1:c.3606G>A	XP_016882536.1:p.Ala1202=
NM_181882.3:c.3708G>A MANE Select	NP_870998.2:p.Ala1236=