Canonical Allele Identifier: CA405894232

Gene: PRX

Linked Data

• gnomAD v4: 19-40395018-C-T
• COSMIC: COSM1393812
• MyVariant Identifiers: chr19:g.40900925C>T (hg19) ; chr19:g.40395018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395018C>T , CM000681.2:g.40395018C>T	GRCh38
NC_000019.9:g.40900925C>T , CM000681.1:g.40900925C>T	GRCh37
NC_000019.8:g.45592765C>T	NCBI36
NG_007979.1:g.23347G>A , LRG_265:g.23347G>A
NG_051224.1:g.204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3334G>A MANE Select	ENSP00000326018.6:p.Ala1112Thr
ENST00000673881.1:c.2917G>A	ENSP00000501070.1:p.Ala973Thr
ENST00000674005.2:c.3619G>A	ENSP00000501261.1:p.Ala1207Thr
ENST00000674773.1:c.2917G>A	ENSP00000502579.1:p.Ala973Thr
ENST00000675517.1:c.3209G>A
ENST00000676076.1:c.3195G>A
ENST00000676260.1:c.3296G>A
ENST00000676316.1:c.3221G>A
ENST00000291825.11:c.*3539G>A	ENSP00000291825.6:n.*3539G>A
ENST00000324001.7:c.3334G>A	ENSP00000326018.6:p.Ala1112Thr
NM_020956.2:c.*3539G>A , LRG_265t1:c.*3539G>A	NP_066007.1:n.*3539G>A
NM_181882.2:c.3334G>A , LRG_265t2:c.3334G>A	NP_870998.2:p.Ala1112Thr
XM_011527171.1:c.3334G>A	XP_011525473.1:p.Ala1112Thr
XM_011527171.2:c.3334G>A	XP_011525473.1:p.Ala1112Thr
XM_017027046.1:c.3232G>A	XP_016882535.1:p.Ala1078Thr
XM_017027047.1:c.3232G>A	XP_016882536.1:p.Ala1078Thr
NM_181882.3:c.3334G>A MANE Select	NP_870998.2:p.Ala1112Thr