Canonical Allele Identifier: CA405894244

Gene: PRX

Linked Data

• gnomAD v4: 19-40395020-C-T
• MyVariant Identifiers: chr19:g.40900927C>T (hg19) ; chr19:g.40395020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395020C>T , CM000681.2:g.40395020C>T	GRCh38
NC_000019.9:g.40900927C>T , CM000681.1:g.40900927C>T	GRCh37
NC_000019.8:g.45592767C>T	NCBI36
NG_007979.1:g.23345G>A , LRG_265:g.23345G>A
NG_051224.1:g.202G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3332G>A MANE Select	ENSP00000326018.6:p.Arg1111Lys
ENST00000673881.1:c.2915G>A	ENSP00000501070.1:p.Arg972Lys
ENST00000674005.2:c.3617G>A	ENSP00000501261.1:p.Arg1206Lys
ENST00000674773.1:c.2915G>A	ENSP00000502579.1:p.Arg972Lys
ENST00000675517.1:c.3207G>A
ENST00000676076.1:c.3193G>A
ENST00000676260.1:c.3294G>A
ENST00000676316.1:c.3219G>A
ENST00000291825.11:c.*3537G>A	ENSP00000291825.6:n.*3537G>A
ENST00000324001.7:c.3332G>A	ENSP00000326018.6:p.Arg1111Lys
NM_020956.2:c.*3537G>A , LRG_265t1:c.*3537G>A	NP_066007.1:n.*3537G>A
NM_181882.2:c.3332G>A , LRG_265t2:c.3332G>A	NP_870998.2:p.Arg1111Lys
XM_011527171.1:c.3332G>A	XP_011525473.1:p.Arg1111Lys
XM_011527171.2:c.3332G>A	XP_011525473.1:p.Arg1111Lys
XM_017027046.1:c.3230G>A	XP_016882535.1:p.Arg1077Lys
XM_017027047.1:c.3230G>A	XP_016882536.1:p.Arg1077Lys
NM_181882.3:c.3332G>A MANE Select	NP_870998.2:p.Arg1111Lys