Canonical Allele Identifier: CA9444074

Gene: PRX

Linked Data

• dbSNP Id: rs773671074
• ExAC: 19:40901943 T / G
• gnomAD v2: 19-40901943-T-G
• gnomAD v3: 19-40396036-T-G
• gnomAD v4: 19-40396036-T-G
• MyVariant Identifiers: chr19:g.40901943T>G (hg19) ; chr19:g.40396036T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396036T>G , CM000681.2:g.40396036T>G	GRCh38
NC_000019.9:g.40901943T>G , CM000681.1:g.40901943T>G	GRCh37
NC_000019.8:g.45593783T>G	NCBI36
NG_007979.1:g.22329A>C , LRG_265:g.22329A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2316A>C MANE Select	ENSP00000326018.6:p.Pro772=
ENST00000673881.1:c.1899A>C	ENSP00000501070.1:p.Pro633=
ENST00000674005.2:c.2601A>C	ENSP00000501261.1:p.Pro867=
ENST00000674773.1:c.1899A>C	ENSP00000502579.1:p.Pro633=
ENST00000675517.1:c.2191A>C
ENST00000676076.1:c.2177A>C
ENST00000676260.1:c.2278A>C
ENST00000676316.1:c.2203A>C
ENST00000291825.11:c.*2521A>C	ENSP00000291825.6:n.*2521A>C
ENST00000324001.7:c.2316A>C	ENSP00000326018.6:p.Pro772=
NM_020956.2:c.*2521A>C , LRG_265t1:c.*2521A>C	NP_066007.1:n.*2521A>C
NM_181882.2:c.2316A>C , LRG_265t2:c.2316A>C	NP_870998.2:p.Pro772=
XM_011527171.1:c.2316A>C	XP_011525473.1:p.Pro772=
XM_011527171.2:c.2316A>C	XP_011525473.1:p.Pro772=
XM_017027046.1:c.2214A>C	XP_016882535.1:p.Pro738=
XM_017027047.1:c.2214A>C	XP_016882536.1:p.Pro738=
NM_181882.3:c.2316A>C MANE Select	NP_870998.2:p.Pro772=