Canonical Allele Identifier: CA9443644

Gene: PRX

Linked Data

• ClinVar Variation Id: 543355
• ClinVar RCV Id: RCV000654099 ; RCV000757696 ; RCV001131558 ; RCV001173755 ; RCV002331268 ; RCV003147528
• dbSNP Id: rs368827070
• ExAC: 19:40899952 C / T
• gnomAD v2: 19-40899952-C-T
• gnomAD v3: 19-40394045-C-T
• gnomAD v4: 19-40394045-C-T
• MyVariant Identifiers: chr19:g.40899952C>T (hg19) ; chr19:g.40394045C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394045C>T , CM000681.2:g.40394045C>T	GRCh38
NC_000019.9:g.40899952C>T , CM000681.1:g.40899952C>T	GRCh37
NC_000019.8:g.45591792C>T	NCBI36
NG_007979.1:g.24320G>A , LRG_265:g.24320G>A
NG_051224.1:g.1177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.4307G>A MANE Select	ENSP00000326018.6:p.Arg1436Gln
ENST00000673881.1:c.3890G>A	ENSP00000501070.1:p.Arg1297Gln
ENST00000674005.2:c.4592G>A	ENSP00000501261.1:p.Arg1531Gln
ENST00000674773.1:c.3890G>A	ENSP00000502579.1:p.Arg1297Gln
ENST00000675517.1:c.4182G>A
ENST00000676076.1:c.4168G>A
ENST00000676260.1:c.4269G>A
ENST00000676316.1:c.4194G>A
ENST00000291825.11:c.*4512G>A	ENSP00000291825.6:n.*4512G>A
ENST00000324001.7:c.4307G>A	ENSP00000326018.6:p.Arg1436Gln
NM_020956.2:c.*4512G>A , LRG_265t1:c.*4512G>A	NP_066007.1:n.*4512G>A
NM_181882.2:c.4307G>A , LRG_265t2:c.4307G>A	NP_870998.2:p.Arg1436Gln
XM_011527171.1:c.4307G>A	XP_011525473.1:p.Arg1436Gln
XM_011527171.2:c.4307G>A	XP_011525473.1:p.Arg1436Gln
XM_017027046.1:c.4205G>A	XP_016882535.1:p.Arg1402Gln
XM_017027047.1:c.4205G>A	XP_016882536.1:p.Arg1402Gln
NM_181882.3:c.4307G>A MANE Select	NP_870998.2:p.Arg1436Gln