Canonical Allele Identifier: CA405893929

Gene: PRX

Linked Data

• dbSNP Id: rs268674
• gnomAD v3: 19-40394958-C-G
• gnomAD v4: 19-40394958-C-G
• MyVariant Identifiers: chr19:g.40900865C>G (hg19) ; chr19:g.40394958C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394958C>G , CM000681.2:g.40394958C>G	GRCh38
NC_000019.9:g.40900865C>G , CM000681.1:g.40900865C>G	GRCh37
NC_000019.8:g.45592705C>G	NCBI36
NG_007979.1:g.23407G>C , LRG_265:g.23407G>C
NG_051224.1:g.264G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3394G>C MANE Select	ENSP00000326018.6:p.Gly1132Arg
ENST00000673881.1:c.2977G>C	ENSP00000501070.1:p.Gly993Arg
ENST00000674005.2:c.3679G>C	ENSP00000501261.1:p.Gly1227Arg
ENST00000674773.1:c.2977G>C	ENSP00000502579.1:p.Gly993Arg
ENST00000675517.1:c.3269G>C
ENST00000676076.1:c.3255G>C
ENST00000676260.1:c.3356G>C
ENST00000676316.1:c.3281G>C
ENST00000291825.11:c.*3599G>C	ENSP00000291825.6:n.*3599G>C
ENST00000324001.7:c.3394G>C	ENSP00000326018.6:p.Gly1132Arg
NM_020956.2:c.*3599G>C , LRG_265t1:c.*3599G>C	NP_066007.1:n.*3599G>C
NM_181882.2:c.3394G>C , LRG_265t2:c.3394G>C	NP_870998.2:p.Gly1132Arg
XM_011527171.1:c.3394G>C	XP_011525473.1:p.Gly1132Arg
XM_011527171.2:c.3394G>C	XP_011525473.1:p.Gly1132Arg
XM_017027046.1:c.3292G>C	XP_016882535.1:p.Gly1098Arg
XM_017027047.1:c.3292G>C	XP_016882536.1:p.Gly1098Arg
NM_181882.3:c.3394G>C MANE Select	NP_870998.2:p.Gly1132Arg