Canonical Allele Identifier: CA220090

Gene: PRX

Linked Data

• ClinVar Variation Id: 38452
• ClinVar RCV Id: RCV002415441
• dbSNP Id: rs3814290
• ExAC: 19:40902308 C / T
• gnomAD v2: 19-40902308-C-T
• gnomAD v3: 19-40396401-C-T
• gnomAD v4: 19-40396401-C-T
• MyVariant Identifiers: chr19:g.40902308C>T (hg19) ; chr19:g.40396401C>T (hg38)
• PubMed: PMID:20301641 ; PMID:22847150

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396401C>T , CM000681.2:g.40396401C>T	GRCh38
NC_000019.9:g.40902308C>T , CM000681.1:g.40902308C>T	GRCh37
NC_000019.8:g.45594148C>T	NCBI36
NG_007979.1:g.21964G>A , LRG_265:g.21964G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.1951G>A MANE Select	ENSP00000326018.6:p.Asp651Asn
ENST00000673881.1:c.1534G>A	ENSP00000501070.1:p.Asp512Asn
ENST00000674005.2:c.2236G>A	ENSP00000501261.1:p.Asp746Asn
ENST00000674773.1:c.1534G>A	ENSP00000502579.1:p.Asp512Asn
ENST00000675517.1:c.1826G>A
ENST00000676076.1:c.1812G>A
ENST00000676260.1:c.1913G>A
ENST00000676316.1:c.1838G>A
ENST00000291825.11:c.*2156G>A	ENSP00000291825.6:n.*2156G>A
ENST00000324001.7:c.1951G>A	ENSP00000326018.6:p.Asp651Asn
NM_020956.2:c.*2156G>A , LRG_265t1:c.*2156G>A	NP_066007.1:n.*2156G>A
NM_181882.2:c.1951G>A , LRG_265t2:c.1951G>A	NP_870998.2:p.Asp651Asn
XM_011527171.1:c.1951G>A	XP_011525473.1:p.Asp651Asn
XM_011527171.2:c.1951G>A	XP_011525473.1:p.Asp651Asn
XM_017027046.1:c.1849G>A	XP_016882535.1:p.Asp617Asn
XM_017027047.1:c.1849G>A	XP_016882536.1:p.Asp617Asn
NM_181882.3:c.1951G>A MANE Select	NP_870998.2:p.Asp651Asn