Canonical Allele Identifier: CA10652471

Gene: PRX

Linked Data

• ClinVar Variation Id: 329296
• ClinVar RCV Id: RCV000323084
• dbSNP Id: rs541213273
• gnomAD v2: 19-40914240-C-G
• gnomAD v3: 19-40408333-C-G
• gnomAD v4: 19-40408333-C-G
• MyVariant Identifiers: chr19:g.40914240C>G (hg19) ; chr19:g.40408333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40408333C>G , CM000681.2:g.40408333C>G	GRCh38
NC_000019.9:g.40914240C>G , CM000681.1:g.40914240C>G	GRCh37
NC_000019.8:g.45606080C>G	NCBI36
NG_007979.1:g.10032G>C , LRG_265:g.10032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.-199+7G>C MANE Select	ENSP00000326018.6:n.-199+7G>C
ENST00000674005.2:c.87+7G>C	ENSP00000501261.1:n.87+7G>C
ENST00000675339.1:c.51G>C
ENST00000675369.1:n.103+7G>C
ENST00000675484.1:c.44+7G>C
ENST00000675511.1:n.42-77G>C
ENST00000676078.1:n.50+1G>C
ENST00000291825.11:c.-199+7G>C	ENSP00000291825.6:n.-199+7G>C
ENST00000324001.7:c.-199+7G>C	ENSP00000326018.6:n.-199+7G>C
NM_020956.2:c.-199+7G>C , LRG_265t1:c.-199+7G>C	NP_066007.1:n.-199+7G>C
NM_181882.2:c.-199+7G>C , LRG_265t2:c.-199+7G>C	NP_870998.2:n.-199+7G>C
XM_011527171.1:c.-199+7G>C	XP_011525473.1:n.-199+7G>C
XM_011527171.2:c.-199+7G>C	XP_011525473.1:n.-199+7G>C
NM_181882.3:c.-199+7G>C MANE Select	NP_870998.2:n.-199+7G>C