Canonical Allele Identifier: CA405893844

Gene: PRX

Linked Data

• gnomAD v4: 19-40394942-T-C
• MyVariant Identifiers: chr19:g.40900849T>C (hg19) ; chr19:g.40394942T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394942T>C , CM000681.2:g.40394942T>C	GRCh38
NC_000019.9:g.40900849T>C , CM000681.1:g.40900849T>C	GRCh37
NC_000019.8:g.45592689T>C	NCBI36
NG_007979.1:g.23423A>G , LRG_265:g.23423A>G
NG_051224.1:g.280A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3410A>G MANE Select	ENSP00000326018.6:p.Glu1137Gly
ENST00000673881.1:c.2993A>G	ENSP00000501070.1:p.Glu998Gly
ENST00000674005.2:c.3695A>G	ENSP00000501261.1:p.Glu1232Gly
ENST00000674773.1:c.2993A>G	ENSP00000502579.1:p.Glu998Gly
ENST00000675517.1:c.3285A>G
ENST00000676076.1:c.3271A>G
ENST00000676260.1:c.3372A>G
ENST00000676316.1:c.3297A>G
ENST00000291825.11:c.*3615A>G	ENSP00000291825.6:n.*3615A>G
ENST00000324001.7:c.3410A>G	ENSP00000326018.6:p.Glu1137Gly
NM_020956.2:c.*3615A>G , LRG_265t1:c.*3615A>G	NP_066007.1:n.*3615A>G
NM_181882.2:c.3410A>G , LRG_265t2:c.3410A>G	NP_870998.2:p.Glu1137Gly
XM_011527171.1:c.3410A>G	XP_011525473.1:p.Glu1137Gly
XM_011527171.2:c.3410A>G	XP_011525473.1:p.Glu1137Gly
XM_017027046.1:c.3308A>G	XP_016882535.1:p.Glu1103Gly
XM_017027047.1:c.3308A>G	XP_016882536.1:p.Glu1103Gly
NM_181882.3:c.3410A>G MANE Select	NP_870998.2:p.Glu1137Gly