Canonical Allele Identifier: CA507679297

Gene: PRX

Linked Data

• gnomAD v3: 19-40396102-C-G
• gnomAD v4: 19-40396102-C-G
• MyVariant Identifiers: chr19:g.40902009C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396102C>G , CM000681.2:g.40396102C>G	GRCh38
NC_000019.9:g.40902009C>G , CM000681.1:g.40902009C>G	GRCh37
NC_000019.8:g.45593849C>G	NCBI36
NG_007979.1:g.22263G>C , LRG_265:g.22263G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2250G>C MANE Select	ENSP00000326018.6:p.Val750=
ENST00000673881.1:c.1833G>C	ENSP00000501070.1:p.Val611=
ENST00000674005.2:c.2535G>C	ENSP00000501261.1:p.Val845=
ENST00000674773.1:c.1833G>C	ENSP00000502579.1:p.Val611=
ENST00000675517.1:c.2125G>C
ENST00000676076.1:c.2111G>C
ENST00000676260.1:c.2212G>C
ENST00000676316.1:c.2137G>C
ENST00000291825.11:c.*2455G>C	ENSP00000291825.6:n.*2455G>C
ENST00000324001.7:c.2250G>C	ENSP00000326018.6:p.Val750=
NM_020956.2:c.*2455G>C , LRG_265t1:c.*2455G>C	NP_066007.1:n.*2455G>C
NM_181882.2:c.2250G>C , LRG_265t2:c.2250G>C	NP_870998.2:p.Val750=
XM_011527171.1:c.2250G>C	XP_011525473.1:p.Val750=
XM_011527171.2:c.2250G>C	XP_011525473.1:p.Val750=
XM_017027046.1:c.2148G>C	XP_016882535.1:p.Val716=
XM_017027047.1:c.2148G>C	XP_016882536.1:p.Val716=
NM_181882.3:c.2250G>C MANE Select	NP_870998.2:p.Val750=