Canonical Allele Identifier: CA405896731

Gene: PRX

Linked Data

• dbSNP Id: rs1254785303
• gnomAD v2: 19-40902036-G-C
• gnomAD v3: 19-40396129-G-C
• gnomAD v4: 19-40396129-G-C
• MyVariant Identifiers: chr19:g.40902036G>C (hg19) ; chr19:g.40396129G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396129G>C , CM000681.2:g.40396129G>C	GRCh38
NC_000019.9:g.40902036G>C , CM000681.1:g.40902036G>C	GRCh37
NC_000019.8:g.45593876G>C	NCBI36
NG_007979.1:g.22236C>G , LRG_265:g.22236C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2223C>G MANE Select	ENSP00000326018.6:p.His741Gln
ENST00000673881.1:c.1806C>G	ENSP00000501070.1:p.His602Gln
ENST00000674005.2:c.2508C>G	ENSP00000501261.1:p.His836Gln
ENST00000674773.1:c.1806C>G	ENSP00000502579.1:p.His602Gln
ENST00000675517.1:c.2098C>G
ENST00000676076.1:c.2084C>G
ENST00000676260.1:c.2185C>G
ENST00000676316.1:c.2110C>G
ENST00000291825.11:c.*2428C>G	ENSP00000291825.6:n.*2428C>G
ENST00000324001.7:c.2223C>G	ENSP00000326018.6:p.His741Gln
NM_020956.2:c.*2428C>G , LRG_265t1:c.*2428C>G	NP_066007.1:n.*2428C>G
NM_181882.2:c.2223C>G , LRG_265t2:c.2223C>G	NP_870998.2:p.His741Gln
XM_011527171.1:c.2223C>G	XP_011525473.1:p.His741Gln
XM_011527171.2:c.2223C>G	XP_011525473.1:p.His741Gln
XM_017027046.1:c.2121C>G	XP_016882535.1:p.His707Gln
XM_017027047.1:c.2121C>G	XP_016882536.1:p.His707Gln
NM_181882.3:c.2223C>G MANE Select	NP_870998.2:p.His741Gln