Canonical Allele Identifier: CA154812

Gene: PRX

Linked Data

• ClinVar Variation Id: 130053
• ClinVar RCV Id: RCV000118080 ; RCV000293783 ; RCV001094554 ; RCV001173789 ; RCV001705854 ; RCV001789175
• dbSNP Id: rs268674
• ExAC: 19:40900865 C / T
• gnomAD v2: 19-40900865-C-T
• gnomAD v3: 19-40394958-C-T
• gnomAD v4: 19-40394958-C-T
• MyVariant Identifiers: chr19:g.40900865C>T (hg19) ; chr19:g.40394958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394958C>T , CM000681.2:g.40394958C>T	GRCh38
NC_000019.9:g.40900865C>T , CM000681.1:g.40900865C>T	GRCh37
NC_000019.8:g.45592705C>T	NCBI36
NG_007979.1:g.23407G>A , LRG_265:g.23407G>A
NG_051224.1:g.264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3394G>A MANE Select	ENSP00000326018.6:p.Gly1132Arg
ENST00000673881.1:c.2977G>A	ENSP00000501070.1:p.Gly993Arg
ENST00000674005.2:c.3679G>A	ENSP00000501261.1:p.Gly1227Arg
ENST00000674773.1:c.2977G>A	ENSP00000502579.1:p.Gly993Arg
ENST00000675517.1:c.3269G>A
ENST00000676076.1:c.3255G>A
ENST00000676260.1:c.3356G>A
ENST00000676316.1:c.3281G>A
ENST00000291825.11:c.*3599G>A	ENSP00000291825.6:n.*3599G>A
ENST00000324001.7:c.3394G>A	ENSP00000326018.6:p.Gly1132Arg
NM_020956.2:c.*3599G>A , LRG_265t1:c.*3599G>A	NP_066007.1:n.*3599G>A
NM_181882.2:c.3394G>A , LRG_265t2:c.3394G>A	NP_870998.2:p.Gly1132Arg
XM_011527171.1:c.3394G>A	XP_011525473.1:p.Gly1132Arg
XM_011527171.2:c.3394G>A	XP_011525473.1:p.Gly1132Arg
XM_017027046.1:c.3292G>A	XP_016882535.1:p.Gly1098Arg
XM_017027047.1:c.3292G>A	XP_016882536.1:p.Gly1098Arg
NM_181882.3:c.3394G>A MANE Select	NP_870998.2:p.Gly1132Arg