Canonical Allele Identifier: CA9444638

Gene: PRX

Linked Data

• ClinVar Variation Id: 329291
• ClinVar RCV Id: RCV000356685 ; RCV000441368 ; RCV001172775
• dbSNP Id: rs780315081
• ExAC: 19:40913859 T / G
• gnomAD v2: 19-40913859-T-G
• gnomAD v3: 19-40407952-T-G
• gnomAD v4: 19-40407952-T-G
• MyVariant Identifiers: chr19:g.40913859T>G (hg19) ; chr19:g.40407952T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40407952T>G , CM000681.2:g.40407952T>G	GRCh38
NC_000019.9:g.40913859T>G , CM000681.1:g.40913859T>G	GRCh37
NC_000019.8:g.45605699T>G	NCBI36
NG_007979.1:g.10413A>C , LRG_265:g.10413A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.-20A>C MANE Select	ENSP00000326018.6:n.-20A>C
ENST00000674005.2:c.266A>C	ENSP00000501261.1:p.Gln89Pro
ENST00000674781.1:n.80A>C
ENST00000674912.1:n.80A>C
ENST00000675484.1:c.124A>C
ENST00000675541.1:n.80A>C
ENST00000676344.1:n.80A>C
ENST00000291825.11:c.-20A>C	ENSP00000291825.6:n.-20A>C
ENST00000324001.7:c.-20A>C	ENSP00000326018.6:n.-20A>C
ENST00000599513.1:n.166A>C
NM_020956.2:c.-20A>C , LRG_265t1:c.-20A>C	NP_066007.1:n.-20A>C
NM_181882.2:c.-20A>C , LRG_265t2:c.-20A>C	NP_870998.2:n.-20A>C
XM_011527171.1:c.-20A>C	XP_011525473.1:n.-20A>C
XM_011527171.2:c.-20A>C	XP_011525473.1:n.-20A>C
NM_181882.3:c.-20A>C MANE Select	NP_870998.2:n.-20A>C