Canonical Allele Identifier: CA405896553

Gene: PRX

Linked Data

• dbSNP Id: rs1375837271
• gnomAD v2: 19-40901945-G-A
• gnomAD v4: 19-40396038-G-A
• MyVariant Identifiers: chr19:g.40901945G>A (hg19) ; chr19:g.40396038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396038G>A , CM000681.2:g.40396038G>A	GRCh38
NC_000019.9:g.40901945G>A , CM000681.1:g.40901945G>A	GRCh37
NC_000019.8:g.45593785G>A	NCBI36
NG_007979.1:g.22327C>T , LRG_265:g.22327C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2314C>T MANE Select	ENSP00000326018.6:p.Pro772Ser
ENST00000673881.1:c.1897C>T	ENSP00000501070.1:p.Pro633Ser
ENST00000674005.2:c.2599C>T	ENSP00000501261.1:p.Pro867Ser
ENST00000674773.1:c.1897C>T	ENSP00000502579.1:p.Pro633Ser
ENST00000675517.1:c.2189C>T
ENST00000676076.1:c.2175C>T
ENST00000676260.1:c.2276C>T
ENST00000676316.1:c.2201C>T
ENST00000291825.11:c.*2519C>T	ENSP00000291825.6:n.*2519C>T
ENST00000324001.7:c.2314C>T	ENSP00000326018.6:p.Pro772Ser
NM_020956.2:c.*2519C>T , LRG_265t1:c.*2519C>T	NP_066007.1:n.*2519C>T
NM_181882.2:c.2314C>T , LRG_265t2:c.2314C>T	NP_870998.2:p.Pro772Ser
XM_011527171.1:c.2314C>T	XP_011525473.1:p.Pro772Ser
XM_011527171.2:c.2314C>T	XP_011525473.1:p.Pro772Ser
XM_017027046.1:c.2212C>T	XP_016882535.1:p.Pro738Ser
XM_017027047.1:c.2212C>T	XP_016882536.1:p.Pro738Ser
NM_181882.3:c.2314C>T MANE Select	NP_870998.2:p.Pro772Ser