Canonical Allele Identifier: CA405894194

Gene: PRX

Linked Data

• dbSNP Id: rs2079418006
• gnomAD v4: 19-40395012-C-G
• MyVariant Identifiers: chr19:g.40900919C>G (hg19) ; chr19:g.40395012C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40395012C>G , CM000681.2:g.40395012C>G	GRCh38
NC_000019.9:g.40900919C>G , CM000681.1:g.40900919C>G	GRCh37
NC_000019.8:g.45592759C>G	NCBI36
NG_007979.1:g.23353G>C , LRG_265:g.23353G>C
NG_051224.1:g.210G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3340G>C MANE Select	ENSP00000326018.6:p.Gly1114Arg
ENST00000673881.1:c.2923G>C	ENSP00000501070.1:p.Gly975Arg
ENST00000674005.2:c.3625G>C	ENSP00000501261.1:p.Gly1209Arg
ENST00000674773.1:c.2923G>C	ENSP00000502579.1:p.Gly975Arg
ENST00000675517.1:c.3215G>C
ENST00000676076.1:c.3201G>C
ENST00000676260.1:c.3302G>C
ENST00000676316.1:c.3227G>C
ENST00000291825.11:c.*3545G>C	ENSP00000291825.6:n.*3545G>C
ENST00000324001.7:c.3340G>C	ENSP00000326018.6:p.Gly1114Arg
NM_020956.2:c.*3545G>C , LRG_265t1:c.*3545G>C	NP_066007.1:n.*3545G>C
NM_181882.2:c.3340G>C , LRG_265t2:c.3340G>C	NP_870998.2:p.Gly1114Arg
XM_011527171.1:c.3340G>C	XP_011525473.1:p.Gly1114Arg
XM_011527171.2:c.3340G>C	XP_011525473.1:p.Gly1114Arg
XM_017027046.1:c.3238G>C	XP_016882535.1:p.Gly1080Arg
XM_017027047.1:c.3238G>C	XP_016882536.1:p.Gly1080Arg
NM_181882.3:c.3340G>C MANE Select	NP_870998.2:p.Gly1114Arg