Canonical Allele Identifier: CA9443874

Gene: PRX

Linked Data

• ClinVar Variation Id: 583305
• ClinVar RCV Id: RCV000707605
• dbSNP Id: rs143654708
• ExAC: 19:40900907 C / T
• gnomAD v2: 19-40900907-C-T
• gnomAD v3: 19-40395000-C-T
• gnomAD v4: 19-40395000-C-T
• MyVariant Identifiers: chr19:g.40900907C>T (hg19) ; chr19:g.40395000C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395000C>T , CM000681.2:g.40395000C>T	GRCh38
NC_000019.9:g.40900907C>T , CM000681.1:g.40900907C>T	GRCh37
NC_000019.8:g.45592747C>T	NCBI36
NG_007979.1:g.23365G>A , LRG_265:g.23365G>A
NG_051224.1:g.222G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3352G>A MANE Select	ENSP00000326018.6:p.Val1118Ile
ENST00000673881.1:c.2935G>A	ENSP00000501070.1:p.Val979Ile
ENST00000674005.2:c.3637G>A	ENSP00000501261.1:p.Val1213Ile
ENST00000674773.1:c.2935G>A	ENSP00000502579.1:p.Val979Ile
ENST00000675517.1:c.3227G>A
ENST00000676076.1:c.3213G>A
ENST00000676260.1:c.3314G>A
ENST00000676316.1:c.3239G>A
ENST00000291825.11:c.*3557G>A	ENSP00000291825.6:n.*3557G>A
ENST00000324001.7:c.3352G>A	ENSP00000326018.6:p.Val1118Ile
NM_020956.2:c.*3557G>A , LRG_265t1:c.*3557G>A	NP_066007.1:n.*3557G>A
NM_181882.2:c.3352G>A , LRG_265t2:c.3352G>A	NP_870998.2:p.Val1118Ile
XM_011527171.1:c.3352G>A	XP_011525473.1:p.Val1118Ile
XM_011527171.2:c.3352G>A	XP_011525473.1:p.Val1118Ile
XM_017027046.1:c.3250G>A	XP_016882535.1:p.Val1084Ile
XM_017027047.1:c.3250G>A	XP_016882536.1:p.Val1084Ile
NM_181882.3:c.3352G>A MANE Select	NP_870998.2:p.Val1118Ile