Canonical Allele Identifier: CA9444034

Gene: PRX

Linked Data

• ClinVar Variation Id: 410603
• ClinVar RCV Id: RCV000461499 ; RCV000712866 ; RCV001136100 ; RCV001173750 ; RCV001643174 ; RCV002436448
• dbSNP Id: rs141686828
• ExAC: 19:40901711 G / C
• gnomAD v2: 19-40901711-G-C
• gnomAD v3: 19-40395804-G-C
• gnomAD v4: 19-40395804-G-C
• MyVariant Identifiers: chr19:g.40901711G>C (hg19) ; chr19:g.40395804G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395804G>C , CM000681.2:g.40395804G>C	GRCh38
NC_000019.9:g.40901711G>C , CM000681.1:g.40901711G>C	GRCh37
NC_000019.8:g.45593551G>C	NCBI36
NG_007979.1:g.22561C>G , LRG_265:g.22561C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2548C>G MANE Select	ENSP00000326018.6:p.Pro850Ala
ENST00000673881.1:c.2131C>G	ENSP00000501070.1:p.Pro711Ala
ENST00000674005.2:c.2833C>G	ENSP00000501261.1:p.Pro945Ala
ENST00000674773.1:c.2131C>G	ENSP00000502579.1:p.Pro711Ala
ENST00000675517.1:c.2423C>G
ENST00000676076.1:c.2409C>G
ENST00000676260.1:c.2510C>G
ENST00000676316.1:c.2435C>G
ENST00000291825.11:c.*2753C>G	ENSP00000291825.6:n.*2753C>G
ENST00000324001.7:c.2548C>G	ENSP00000326018.6:p.Pro850Ala
NM_020956.2:c.*2753C>G , LRG_265t1:c.*2753C>G	NP_066007.1:n.*2753C>G
NM_181882.2:c.2548C>G , LRG_265t2:c.2548C>G	NP_870998.2:p.Pro850Ala
XM_011527171.1:c.2548C>G	XP_011525473.1:p.Pro850Ala
XM_011527171.2:c.2548C>G	XP_011525473.1:p.Pro850Ala
XM_017027046.1:c.2446C>G	XP_016882535.1:p.Pro816Ala
XM_017027047.1:c.2446C>G	XP_016882536.1:p.Pro816Ala
NM_181882.3:c.2548C>G MANE Select	NP_870998.2:p.Pro850Ala