Canonical Allele Identifier: CA405893683

Gene: PRX

Linked Data

• ClinVar Variation Id: 1731419
• ClinVar RCV Id: RCV002457071
• dbSNP Id: rs2079416472
• gnomAD v3: 19-40394915-G-A
• gnomAD v4: 19-40394915-G-A
• MyVariant Identifiers: chr19:g.40900822G>A (hg19) ; chr19:g.40394915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394915G>A , CM000681.2:g.40394915G>A	GRCh38
NC_000019.9:g.40900822G>A , CM000681.1:g.40900822G>A	GRCh37
NC_000019.8:g.45592662G>A	NCBI36
NG_007979.1:g.23450C>T , LRG_265:g.23450C>T
NG_051224.1:g.307C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.3437C>T MANE Select	ENSP00000326018.6:p.Pro1146Leu
ENST00000673881.1:c.3020C>T	ENSP00000501070.1:p.Pro1007Leu
ENST00000674005.2:c.3722C>T	ENSP00000501261.1:p.Pro1241Leu
ENST00000674773.1:c.3020C>T	ENSP00000502579.1:p.Pro1007Leu
ENST00000675517.1:c.3312C>T
ENST00000676076.1:c.3298C>T
ENST00000676260.1:c.3399C>T
ENST00000676316.1:c.3324C>T
ENST00000291825.11:c.*3642C>T	ENSP00000291825.6:n.*3642C>T
ENST00000324001.7:c.3437C>T	ENSP00000326018.6:p.Pro1146Leu
NM_020956.2:c.*3642C>T , LRG_265t1:c.*3642C>T	NP_066007.1:n.*3642C>T
NM_181882.2:c.3437C>T , LRG_265t2:c.3437C>T	NP_870998.2:p.Pro1146Leu
XM_011527171.1:c.3437C>T	XP_011525473.1:p.Pro1146Leu
XM_011527171.2:c.3437C>T	XP_011525473.1:p.Pro1146Leu
XM_017027046.1:c.3335C>T	XP_016882535.1:p.Pro1112Leu
XM_017027047.1:c.3335C>T	XP_016882536.1:p.Pro1112Leu
NM_181882.3:c.3437C>T MANE Select	NP_870998.2:p.Pro1146Leu