Canonical Allele Identifier: CA405897065

Gene: PRX

Linked Data

• gnomAD v4: 19-40396280-A-G
• MyVariant Identifiers: chr19:g.40902187A>G (hg19) ; chr19:g.40396280A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396280A>G , CM000681.2:g.40396280A>G	GRCh38
NC_000019.9:g.40902187A>G , CM000681.1:g.40902187A>G	GRCh37
NC_000019.8:g.45594027A>G	NCBI36
NG_007979.1:g.22085T>C , LRG_265:g.22085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.2072T>C MANE Select	ENSP00000326018.6:p.Met691Thr
ENST00000673881.1:c.1655T>C	ENSP00000501070.1:p.Met552Thr
ENST00000674005.2:c.2357T>C	ENSP00000501261.1:p.Met786Thr
ENST00000674773.1:c.1655T>C	ENSP00000502579.1:p.Met552Thr
ENST00000675517.1:c.1947T>C
ENST00000676076.1:c.1933T>C
ENST00000676260.1:c.2034T>C
ENST00000676316.1:c.1959T>C
ENST00000291825.11:c.*2277T>C	ENSP00000291825.6:n.*2277T>C
ENST00000324001.7:c.2072T>C	ENSP00000326018.6:p.Met691Thr
NM_020956.2:c.*2277T>C , LRG_265t1:c.*2277T>C	NP_066007.1:n.*2277T>C
NM_181882.2:c.2072T>C , LRG_265t2:c.2072T>C	NP_870998.2:p.Met691Thr
XM_011527171.1:c.2072T>C	XP_011525473.1:p.Met691Thr
XM_011527171.2:c.2072T>C	XP_011525473.1:p.Met691Thr
XM_017027046.1:c.1970T>C	XP_016882535.1:p.Met657Thr
XM_017027047.1:c.1970T>C	XP_016882536.1:p.Met657Thr
NM_181882.3:c.2072T>C MANE Select	NP_870998.2:p.Met691Thr