Canonical Allele Identifier: CA349458

Gene: PRX

Linked Data

• ClinVar Variation Id: 220167
• ClinVar RCV Id: RCV000205288
• dbSNP Id: rs143654708
• gnomAD v4: 19-40395000-C-A
• MyVariant Identifiers: chr19:g.40900907C>A (hg19) ; chr19:g.40395000C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3352G>T MANE Select	ENSP00000326018.6:p.Val1118Phe
ENST00000673881.1:c.2935G>T	ENSP00000501070.1:p.Val979Phe
ENST00000674005.2:c.3637G>T	ENSP00000501261.1:p.Val1213Phe
ENST00000674773.1:c.2935G>T	ENSP00000502579.1:p.Val979Phe
ENST00000675517.1:c.3227G>T
ENST00000676076.1:c.3213G>T
ENST00000676260.1:c.3314G>T
ENST00000676316.1:c.3239G>T
ENST00000291825.11:c.*3557G>T	ENSP00000291825.6:n.*3557G>T
ENST00000324001.7:c.3352G>T	ENSP00000326018.6:p.Val1118Phe
NM_020956.2:c.*3557G>T , LRG_265t1:c.*3557G>T	NP_066007.1:n.*3557G>T
NM_181882.2:c.3352G>T , LRG_265t2:c.3352G>T	NP_870998.2:p.Val1118Phe
XM_011527171.1:c.3352G>T	XP_011525473.1:p.Val1118Phe
XM_011527171.2:c.3352G>T	XP_011525473.1:p.Val1118Phe
XM_017027046.1:c.3250G>T	XP_016882535.1:p.Val1084Phe
XM_017027047.1:c.3250G>T	XP_016882536.1:p.Val1084Phe
NM_181882.3:c.3352G>T MANE Select	NP_870998.2:p.Val1118Phe