Canonical Allele Identifier: CA507679257

Gene: PRX

Linked Data

• dbSNP Id: rs2079430171
• gnomAD v3: 19-40395925-T-C
• gnomAD v4: 19-40395925-T-C
• MyVariant Identifiers: chr19:g.40901832T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395925T>C , CM000681.2:g.40395925T>C	GRCh38
NC_000019.9:g.40901832T>C , CM000681.1:g.40901832T>C	GRCh37
NC_000019.8:g.45593672T>C	NCBI36
NG_007979.1:g.22440A>G , LRG_265:g.22440A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2427A>G MANE Select	ENSP00000326018.6:p.Leu809=
ENST00000673881.1:c.2010A>G	ENSP00000501070.1:p.Leu670=
ENST00000674005.2:c.2712A>G	ENSP00000501261.1:p.Leu904=
ENST00000674773.1:c.2010A>G	ENSP00000502579.1:p.Leu670=
ENST00000675517.1:c.2302A>G
ENST00000676076.1:c.2288A>G
ENST00000676260.1:c.2389A>G
ENST00000676316.1:c.2314A>G
ENST00000291825.11:c.*2632A>G	ENSP00000291825.6:n.*2632A>G
ENST00000324001.7:c.2427A>G	ENSP00000326018.6:p.Leu809=
NM_020956.2:c.*2632A>G , LRG_265t1:c.*2632A>G	NP_066007.1:n.*2632A>G
NM_181882.2:c.2427A>G , LRG_265t2:c.2427A>G	NP_870998.2:p.Leu809=
XM_011527171.1:c.2427A>G	XP_011525473.1:p.Leu809=
XM_011527171.2:c.2427A>G	XP_011525473.1:p.Leu809=
XM_017027046.1:c.2325A>G	XP_016882535.1:p.Leu775=
XM_017027047.1:c.2325A>G	XP_016882536.1:p.Leu775=
NM_181882.3:c.2427A>G MANE Select	NP_870998.2:p.Leu809=