Canonical Allele Identifier: CA405896815

Gene: PRX

Linked Data

• ClinVar Variation Id: 856327
• ClinVar RCV Id: RCV001061766
• dbSNP Id: rs2079433471
• MyVariant Identifiers: chr19:g.40902074G>A (hg19) ; chr19:g.40396167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396167G>A , CM000681.2:g.40396167G>A	GRCh38
NC_000019.9:g.40902074G>A , CM000681.1:g.40902074G>A	GRCh37
NC_000019.8:g.45593914G>A	NCBI36
NG_007979.1:g.22198C>T , LRG_265:g.22198C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2185C>T MANE Select	ENSP00000326018.6:p.Leu729Phe
ENST00000673881.1:c.1768C>T	ENSP00000501070.1:p.Leu590Phe
ENST00000674005.2:c.2470C>T	ENSP00000501261.1:p.Leu824Phe
ENST00000674773.1:c.1768C>T	ENSP00000502579.1:p.Leu590Phe
ENST00000675517.1:c.2060C>T
ENST00000676076.1:c.2046C>T
ENST00000676260.1:c.2147C>T
ENST00000676316.1:c.2072C>T
ENST00000291825.11:c.*2390C>T	ENSP00000291825.6:n.*2390C>T
ENST00000324001.7:c.2185C>T	ENSP00000326018.6:p.Leu729Phe
NM_020956.2:c.*2390C>T , LRG_265t1:c.*2390C>T	NP_066007.1:n.*2390C>T
NM_181882.2:c.2185C>T , LRG_265t2:c.2185C>T	NP_870998.2:p.Leu729Phe
XM_011527171.1:c.2185C>T	XP_011525473.1:p.Leu729Phe
XM_011527171.2:c.2185C>T	XP_011525473.1:p.Leu729Phe
XM_017027046.1:c.2083C>T	XP_016882535.1:p.Leu695Phe
XM_017027047.1:c.2083C>T	XP_016882536.1:p.Leu695Phe
NM_181882.3:c.2185C>T MANE Select	NP_870998.2:p.Leu729Phe