Canonical Allele Identifier: CA308419627

Gene: PRX

Linked Data

• dbSNP Id: rs866084018
• gnomAD v2: 19-40902078-T-C
• gnomAD v3: 19-40396171-T-C
• gnomAD v4: 19-40396171-T-C
• COSMIC: COSM5950726
• MyVariant Identifiers: chr19:g.40902078T>C (hg19) ; chr19:g.40396171T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396171T>C , CM000681.2:g.40396171T>C	GRCh38
NC_000019.9:g.40902078T>C , CM000681.1:g.40902078T>C	GRCh37
NC_000019.8:g.45593918T>C	NCBI36
NG_007979.1:g.22194A>G , LRG_265:g.22194A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2181A>G MANE Select	ENSP00000326018.6:p.Ile727Met
ENST00000673881.1:c.1764A>G	ENSP00000501070.1:p.Ile588Met
ENST00000674005.2:c.2466A>G	ENSP00000501261.1:p.Ile822Met
ENST00000674773.1:c.1764A>G	ENSP00000502579.1:p.Ile588Met
ENST00000675517.1:c.2056A>G
ENST00000676076.1:c.2042A>G
ENST00000676260.1:c.2143A>G
ENST00000676316.1:c.2068A>G
ENST00000291825.11:c.*2386A>G	ENSP00000291825.6:n.*2386A>G
ENST00000324001.7:c.2181A>G	ENSP00000326018.6:p.Ile727Met
NM_020956.2:c.*2386A>G , LRG_265t1:c.*2386A>G	NP_066007.1:n.*2386A>G
NM_181882.2:c.2181A>G , LRG_265t2:c.2181A>G	NP_870998.2:p.Ile727Met
XM_011527171.1:c.2181A>G	XP_011525473.1:p.Ile727Met
XM_011527171.2:c.2181A>G	XP_011525473.1:p.Ile727Met
XM_017027046.1:c.2079A>G	XP_016882535.1:p.Ile693Met
XM_017027047.1:c.2079A>G	XP_016882536.1:p.Ile693Met
NM_181882.3:c.2181A>G MANE Select	NP_870998.2:p.Ile727Met