Canonical Allele Identifier: CA9444077

Gene: PRX

Linked Data

• dbSNP Id: rs774839817
• ExAC: 19:40901958 A / G
• gnomAD v2: 19-40901958-A-G
• gnomAD v4: 19-40396051-A-G
• MyVariant Identifiers: chr19:g.40901958A>G (hg19) ; chr19:g.40396051A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396051A>G , CM000681.2:g.40396051A>G	GRCh38
NC_000019.9:g.40901958A>G , CM000681.1:g.40901958A>G	GRCh37
NC_000019.8:g.45593798A>G	NCBI36
NG_007979.1:g.22314T>C , LRG_265:g.22314T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2301T>C MANE Select	ENSP00000326018.6:p.His767=
ENST00000673881.1:c.1884T>C	ENSP00000501070.1:p.His628=
ENST00000674005.2:c.2586T>C	ENSP00000501261.1:p.His862=
ENST00000674773.1:c.1884T>C	ENSP00000502579.1:p.His628=
ENST00000675517.1:c.2176T>C
ENST00000676076.1:c.2162T>C
ENST00000676260.1:c.2263T>C
ENST00000676316.1:c.2188T>C
ENST00000291825.11:c.*2506T>C	ENSP00000291825.6:n.*2506T>C
ENST00000324001.7:c.2301T>C	ENSP00000326018.6:p.His767=
NM_020956.2:c.*2506T>C , LRG_265t1:c.*2506T>C	NP_066007.1:n.*2506T>C
NM_181882.2:c.2301T>C , LRG_265t2:c.2301T>C	NP_870998.2:p.His767=
XM_011527171.1:c.2301T>C	XP_011525473.1:p.His767=
XM_011527171.2:c.2301T>C	XP_011525473.1:p.His767=
XM_017027046.1:c.2199T>C	XP_016882535.1:p.His733=
XM_017027047.1:c.2199T>C	XP_016882536.1:p.His733=
NM_181882.3:c.2301T>C MANE Select	NP_870998.2:p.His767=