Canonical Allele Identifier: CA9443819

Gene: PRX

Linked Data

• ClinVar Variation Id: 245707
• ClinVar RCV Id: RCV000236735 ; RCV000703799 ; RCV001173059 ; RCV002450723
• dbSNP Id: rs201393544
• ExAC: 19:40900603 G / A
• gnomAD v2: 19-40900603-G-A
• gnomAD v3: 19-40394696-G-A
• gnomAD v4: 19-40394696-G-A
• MyVariant Identifiers: chr19:g.40900603G>A (hg19) ; chr19:g.40394696G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394696G>A , CM000681.2:g.40394696G>A	GRCh38
NC_000019.9:g.40900603G>A , CM000681.1:g.40900603G>A	GRCh37
NC_000019.8:g.45592443G>A	NCBI36
NG_007979.1:g.23669C>T , LRG_265:g.23669C>T
NG_051224.1:g.526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3656C>T MANE Select	ENSP00000326018.6:p.Pro1219Leu
ENST00000673881.1:c.3239C>T	ENSP00000501070.1:p.Pro1080Leu
ENST00000674005.2:c.3941C>T	ENSP00000501261.1:p.Pro1314Leu
ENST00000674773.1:c.3239C>T	ENSP00000502579.1:p.Pro1080Leu
ENST00000675517.1:c.3531C>T
ENST00000676076.1:c.3517C>T
ENST00000676260.1:c.3618C>T
ENST00000676316.1:c.3543C>T
ENST00000291825.11:c.*3861C>T	ENSP00000291825.6:n.*3861C>T
ENST00000324001.7:c.3656C>T	ENSP00000326018.6:p.Pro1219Leu
NM_020956.2:c.*3861C>T , LRG_265t1:c.*3861C>T	NP_066007.1:n.*3861C>T
NM_181882.2:c.3656C>T , LRG_265t2:c.3656C>T	NP_870998.2:p.Pro1219Leu
XM_011527171.1:c.3656C>T	XP_011525473.1:p.Pro1219Leu
XM_011527171.2:c.3656C>T	XP_011525473.1:p.Pro1219Leu
XM_017027046.1:c.3554C>T	XP_016882535.1:p.Pro1185Leu
XM_017027047.1:c.3554C>T	XP_016882536.1:p.Pro1185Leu
NM_181882.3:c.3656C>T MANE Select	NP_870998.2:p.Pro1219Leu