Canonical Allele Identifier: CA507679366

Gene: PRX

Linked Data

• dbSNP Id: rs1336238948
• gnomAD v3: 19-40396162-G-T
• gnomAD v4: 19-40396162-G-T
• MyVariant Identifiers: chr19:g.40902069G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396162G>T , CM000681.2:g.40396162G>T	GRCh38
NC_000019.9:g.40902069G>T , CM000681.1:g.40902069G>T	GRCh37
NC_000019.8:g.45593909G>T	NCBI36
NG_007979.1:g.22203C>A , LRG_265:g.22203C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2190C>A MANE Select	ENSP00000326018.6:p.Pro730=
ENST00000673881.1:c.1773C>A	ENSP00000501070.1:p.Pro591=
ENST00000674005.2:c.2475C>A	ENSP00000501261.1:p.Pro825=
ENST00000674773.1:c.1773C>A	ENSP00000502579.1:p.Pro591=
ENST00000675517.1:c.2065C>A
ENST00000676076.1:c.2051C>A
ENST00000676260.1:c.2152C>A
ENST00000676316.1:c.2077C>A
ENST00000291825.11:c.*2395C>A	ENSP00000291825.6:n.*2395C>A
ENST00000324001.7:c.2190C>A	ENSP00000326018.6:p.Pro730=
NM_020956.2:c.*2395C>A , LRG_265t1:c.*2395C>A	NP_066007.1:n.*2395C>A
NM_181882.2:c.2190C>A , LRG_265t2:c.2190C>A	NP_870998.2:p.Pro730=
XM_011527171.1:c.2190C>A	XP_011525473.1:p.Pro730=
XM_011527171.2:c.2190C>A	XP_011525473.1:p.Pro730=
XM_017027046.1:c.2088C>A	XP_016882535.1:p.Pro696=
XM_017027047.1:c.2088C>A	XP_016882536.1:p.Pro696=
NM_181882.3:c.2190C>A MANE Select	NP_870998.2:p.Pro730=