Canonical Allele Identifier: CA507677930

Gene: PRX

Linked Data

• ClinVar Variation Id: 543441
• ClinVar RCV Id: RCV000654202 ; RCV002331273
• dbSNP Id: rs1555800370
• MyVariant Identifiers: chr19:g.40900035G>C (hg19) ; chr19:g.40394128G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394128G>C , CM000681.2:g.40394128G>C	GRCh38
NC_000019.9:g.40900035G>C , CM000681.1:g.40900035G>C	GRCh37
NC_000019.8:g.45591875G>C	NCBI36
NG_007979.1:g.24237C>G , LRG_265:g.24237C>G
NG_051224.1:g.1094C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.4224C>G MANE Select	ENSP00000326018.6:p.Pro1408=
ENST00000673881.1:c.3807C>G	ENSP00000501070.1:p.Pro1269=
ENST00000674005.2:c.4509C>G	ENSP00000501261.1:p.Pro1503=
ENST00000674773.1:c.3807C>G	ENSP00000502579.1:p.Pro1269=
ENST00000675517.1:c.4099C>G
ENST00000676076.1:c.4085C>G
ENST00000676260.1:c.4186C>G
ENST00000676316.1:c.4111C>G
ENST00000291825.11:c.*4429C>G	ENSP00000291825.6:n.*4429C>G
ENST00000324001.7:c.4224C>G	ENSP00000326018.6:p.Pro1408=
NM_020956.2:c.*4429C>G , LRG_265t1:c.*4429C>G	NP_066007.1:n.*4429C>G
NM_181882.2:c.4224C>G , LRG_265t2:c.4224C>G	NP_870998.2:p.Pro1408=
XM_011527171.1:c.4224C>G	XP_011525473.1:p.Pro1408=
XM_011527171.2:c.4224C>G	XP_011525473.1:p.Pro1408=
XM_017027046.1:c.4122C>G	XP_016882535.1:p.Pro1374=
XM_017027047.1:c.4122C>G	XP_016882536.1:p.Pro1374=
NM_181882.3:c.4224C>G MANE Select	NP_870998.2:p.Pro1408=