Canonical Allele Identifier: CA9443662

Gene: PRX

Linked Data

• ClinVar Variation Id: 246041
• ClinVar RCV Id: RCV000236345 ; RCV000542374 ; RCV001172769 ; RCV001824704 ; RCV001358804 ; RCV002327160
• dbSNP Id: rs146468976
• ExAC: 19:40900040 A / C
• gnomAD v2: 19-40900040-A-C
• gnomAD v3: 19-40394133-A-C
• gnomAD v4: 19-40394133-A-C
• MyVariant Identifiers: chr19:g.40900040A>C (hg19) ; chr19:g.40394133A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394133A>C , CM000681.2:g.40394133A>C	GRCh38
NC_000019.9:g.40900040A>C , CM000681.1:g.40900040A>C	GRCh37
NC_000019.8:g.45591880A>C	NCBI36
NG_007979.1:g.24232T>G , LRG_265:g.24232T>G
NG_051224.1:g.1089T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.4219T>G MANE Select	ENSP00000326018.6:p.Ser1407Ala
ENST00000673881.1:c.3802T>G	ENSP00000501070.1:p.Ser1268Ala
ENST00000674005.2:c.4504T>G	ENSP00000501261.1:p.Ser1502Ala
ENST00000674773.1:c.3802T>G	ENSP00000502579.1:p.Ser1268Ala
ENST00000675517.1:c.4094T>G
ENST00000676076.1:c.4080T>G
ENST00000676260.1:c.4181T>G
ENST00000676316.1:c.4106T>G
ENST00000291825.11:c.*4424T>G	ENSP00000291825.6:n.*4424T>G
ENST00000324001.7:c.4219T>G	ENSP00000326018.6:p.Ser1407Ala
NM_020956.2:c.*4424T>G , LRG_265t1:c.*4424T>G	NP_066007.1:n.*4424T>G
NM_181882.2:c.4219T>G , LRG_265t2:c.4219T>G	NP_870998.2:p.Ser1407Ala
XM_011527171.1:c.4219T>G	XP_011525473.1:p.Ser1407Ala
XM_011527171.2:c.4219T>G	XP_011525473.1:p.Ser1407Ala
XM_017027046.1:c.4117T>G	XP_016882535.1:p.Ser1373Ala
XM_017027047.1:c.4117T>G	XP_016882536.1:p.Ser1373Ala
NM_181882.3:c.4219T>G MANE Select	NP_870998.2:p.Ser1407Ala