Canonical Allele Identifier: CA154798

Gene: PRX

Linked Data

• ClinVar Variation Id: 130049
• ClinVar RCV Id: RCV000118076 ; RCV000326806 ; RCV000576609 ; RCV001173792 ; RCV001705852 ; RCV001789174
• dbSNP Id: rs268672
• ExAC: 19:40901604 A / G
• gnomAD v2: 19-40901604-A-G
• gnomAD v3: 19-40395697-A-G
• gnomAD v4: 19-40395697-A-G
• MyVariant Identifiers: chr19:g.40901604A>G (hg19) ; chr19:g.40395697A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395697A>G , CM000681.2:g.40395697A>G	GRCh38
NC_000019.9:g.40901604A>G , CM000681.1:g.40901604A>G	GRCh37
NC_000019.8:g.45593444A>G	NCBI36
NG_007979.1:g.22668T>C , LRG_265:g.22668T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2655T>C MANE Select	ENSP00000326018.6:p.Pro885=
ENST00000673881.1:c.2238T>C	ENSP00000501070.1:p.Pro746=
ENST00000674005.2:c.2940T>C	ENSP00000501261.1:p.Pro980=
ENST00000674773.1:c.2238T>C	ENSP00000502579.1:p.Pro746=
ENST00000675517.1:c.2530T>C
ENST00000676076.1:c.2516T>C
ENST00000676260.1:c.2617T>C
ENST00000676316.1:c.2542T>C
ENST00000291825.11:c.*2860T>C	ENSP00000291825.6:n.*2860T>C
ENST00000324001.7:c.2655T>C	ENSP00000326018.6:p.Pro885=
NM_020956.2:c.*2860T>C , LRG_265t1:c.*2860T>C	NP_066007.1:n.*2860T>C
NM_181882.2:c.2655T>C , LRG_265t2:c.2655T>C	NP_870998.2:p.Pro885=
XM_011527171.1:c.2655T>C	XP_011525473.1:p.Pro885=
XM_011527171.2:c.2655T>C	XP_011525473.1:p.Pro885=
XM_017027046.1:c.2553T>C	XP_016882535.1:p.Pro851=
XM_017027047.1:c.2553T>C	XP_016882536.1:p.Pro851=
NM_181882.3:c.2655T>C MANE Select	NP_870998.2:p.Pro885=