Canonical Allele Identifier: CA9443736

Gene: PRX

Linked Data

• ClinVar Variation Id: 543487
• ClinVar RCV Id: RCV000654261 ; RCV001173782 ; RCV001550033 ; RCV002369761
• dbSNP Id: rs140109585
• ExAC: 19:40900320 C / T
• gnomAD v2: 19-40900320-C-T
• gnomAD v3: 19-40394413-C-T
• gnomAD v4: 19-40394413-C-T
• MyVariant Identifiers: chr19:g.40900320C>T (hg19) ; chr19:g.40394413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394413C>T , CM000681.2:g.40394413C>T	GRCh38
NC_000019.9:g.40900320C>T , CM000681.1:g.40900320C>T	GRCh37
NC_000019.8:g.45592160C>T	NCBI36
NG_007979.1:g.23952G>A , LRG_265:g.23952G>A
NG_051224.1:g.809G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3939G>A MANE Select	ENSP00000326018.6:p.Leu1313=
ENST00000673881.1:c.3522G>A	ENSP00000501070.1:p.Leu1174=
ENST00000674005.2:c.4224G>A	ENSP00000501261.1:p.Leu1408=
ENST00000674773.1:c.3522G>A	ENSP00000502579.1:p.Leu1174=
ENST00000675517.1:c.3814G>A
ENST00000676076.1:c.3800G>A
ENST00000676260.1:c.3901G>A
ENST00000676316.1:c.3826G>A
ENST00000291825.11:c.*4144G>A	ENSP00000291825.6:n.*4144G>A
ENST00000324001.7:c.3939G>A	ENSP00000326018.6:p.Leu1313=
NM_020956.2:c.*4144G>A , LRG_265t1:c.*4144G>A	NP_066007.1:n.*4144G>A
NM_181882.2:c.3939G>A , LRG_265t2:c.3939G>A	NP_870998.2:p.Leu1313=
XM_011527171.1:c.3939G>A	XP_011525473.1:p.Leu1313=
XM_011527171.2:c.3939G>A	XP_011525473.1:p.Leu1313=
XM_017027046.1:c.3837G>A	XP_016882535.1:p.Leu1279=
XM_017027047.1:c.3837G>A	XP_016882536.1:p.Leu1279=
NM_181882.3:c.3939G>A MANE Select	NP_870998.2:p.Leu1313=