Canonical Allele Identifier: CA9444638
Gene: PRX HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.40407952T>G
GRCh37 chr19:g.40913859T>G
gnomAD v2:
19:40913859 T / G
gnomAD v3:
19:40407952 T / G
gnomAD v4:
chr19-40407952-T-G
Joint Max Group AF 0.0002417 (NFE)
Genomes Max Group AF 0.0001587 (NFE)
Exomes Max Group AF 0.00024207 (NFE)
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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
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