Canonical Allele Identifier: CA405892273

Gene: PRX

Linked Data

• gnomAD v4: 19-40394583-C-G
• MyVariant Identifiers: chr19:g.40900490C>G (hg19) ; chr19:g.40394583C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394583C>G , CM000681.2:g.40394583C>G	GRCh38
NC_000019.9:g.40900490C>G , CM000681.1:g.40900490C>G	GRCh37
NC_000019.8:g.45592330C>G	NCBI36
NG_007979.1:g.23782G>C , LRG_265:g.23782G>C
NG_051224.1:g.639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3769G>C MANE Select	ENSP00000326018.6:p.Gly1257Arg
ENST00000673881.1:c.3352G>C	ENSP00000501070.1:p.Gly1118Arg
ENST00000674005.2:c.4054G>C	ENSP00000501261.1:p.Gly1352Arg
ENST00000674773.1:c.3352G>C	ENSP00000502579.1:p.Gly1118Arg
ENST00000675517.1:c.3644G>C
ENST00000676076.1:c.3630G>C
ENST00000676260.1:c.3731G>C
ENST00000676316.1:c.3656G>C
ENST00000291825.11:c.*3974G>C	ENSP00000291825.6:n.*3974G>C
ENST00000324001.7:c.3769G>C	ENSP00000326018.6:p.Gly1257Arg
NM_020956.2:c.*3974G>C , LRG_265t1:c.*3974G>C	NP_066007.1:n.*3974G>C
NM_181882.2:c.3769G>C , LRG_265t2:c.3769G>C	NP_870998.2:p.Gly1257Arg
XM_011527171.1:c.3769G>C	XP_011525473.1:p.Gly1257Arg
XM_011527171.2:c.3769G>C	XP_011525473.1:p.Gly1257Arg
XM_017027046.1:c.3667G>C	XP_016882535.1:p.Gly1223Arg
XM_017027047.1:c.3667G>C	XP_016882536.1:p.Gly1223Arg
NM_181882.3:c.3769G>C MANE Select	NP_870998.2:p.Gly1257Arg