Canonical Allele Identifier: CA405894173

Gene: PRX

Linked Data

• gnomAD v4: 19-40395008-G-A
• MyVariant Identifiers: chr19:g.40900915G>A (hg19) ; chr19:g.40395008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395008G>A , CM000681.2:g.40395008G>A	GRCh38
NC_000019.9:g.40900915G>A , CM000681.1:g.40900915G>A	GRCh37
NC_000019.8:g.45592755G>A	NCBI36
NG_007979.1:g.23357C>T , LRG_265:g.23357C>T
NG_051224.1:g.214C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3344C>T MANE Select	ENSP00000326018.6:p.Ala1115Val
ENST00000673881.1:c.2927C>T	ENSP00000501070.1:p.Ala976Val
ENST00000674005.2:c.3629C>T	ENSP00000501261.1:p.Ala1210Val
ENST00000674773.1:c.2927C>T	ENSP00000502579.1:p.Ala976Val
ENST00000675517.1:c.3219C>T
ENST00000676076.1:c.3205C>T
ENST00000676260.1:c.3306C>T
ENST00000676316.1:c.3231C>T
ENST00000291825.11:c.*3549C>T	ENSP00000291825.6:n.*3549C>T
ENST00000324001.7:c.3344C>T	ENSP00000326018.6:p.Ala1115Val
NM_020956.2:c.*3549C>T , LRG_265t1:c.*3549C>T	NP_066007.1:n.*3549C>T
NM_181882.2:c.3344C>T , LRG_265t2:c.3344C>T	NP_870998.2:p.Ala1115Val
XM_011527171.1:c.3344C>T	XP_011525473.1:p.Ala1115Val
XM_011527171.2:c.3344C>T	XP_011525473.1:p.Ala1115Val
XM_017027046.1:c.3242C>T	XP_016882535.1:p.Ala1081Val
XM_017027047.1:c.3242C>T	XP_016882536.1:p.Ala1081Val
NM_181882.3:c.3344C>T MANE Select	NP_870998.2:p.Ala1115Val