Canonical Allele Identifier: CA405893763

Gene: PRX

Linked Data

• dbSNP Id: rs1451102224
• gnomAD v2: 19-40900834-C-T
• gnomAD v4: 19-40394927-C-T
• MyVariant Identifiers: chr19:g.40900834C>T (hg19) ; chr19:g.40394927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394927C>T , CM000681.2:g.40394927C>T	GRCh38
NC_000019.9:g.40900834C>T , CM000681.1:g.40900834C>T	GRCh37
NC_000019.8:g.45592674C>T	NCBI36
NG_007979.1:g.23438G>A , LRG_265:g.23438G>A
NG_051224.1:g.295G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3425G>A MANE Select	ENSP00000326018.6:p.Gly1142Glu
ENST00000673881.1:c.3008G>A	ENSP00000501070.1:p.Gly1003Glu
ENST00000674005.2:c.3710G>A	ENSP00000501261.1:p.Gly1237Glu
ENST00000674773.1:c.3008G>A	ENSP00000502579.1:p.Gly1003Glu
ENST00000675517.1:c.3300G>A
ENST00000676076.1:c.3286G>A
ENST00000676260.1:c.3387G>A
ENST00000676316.1:c.3312G>A
ENST00000291825.11:c.*3630G>A	ENSP00000291825.6:n.*3630G>A
ENST00000324001.7:c.3425G>A	ENSP00000326018.6:p.Gly1142Glu
NM_020956.2:c.*3630G>A , LRG_265t1:c.*3630G>A	NP_066007.1:n.*3630G>A
NM_181882.2:c.3425G>A , LRG_265t2:c.3425G>A	NP_870998.2:p.Gly1142Glu
XM_011527171.1:c.3425G>A	XP_011525473.1:p.Gly1142Glu
XM_011527171.2:c.3425G>A	XP_011525473.1:p.Gly1142Glu
XM_017027046.1:c.3323G>A	XP_016882535.1:p.Gly1108Glu
XM_017027047.1:c.3323G>A	XP_016882536.1:p.Gly1108Glu
NM_181882.3:c.3425G>A MANE Select	NP_870998.2:p.Gly1142Glu