Canonical Allele Identifier: CA507678306

Gene: PRX

Linked Data

• dbSNP Id: rs1364641788
• gnomAD v2: 19-40900758-C-T
• MyVariant Identifiers: chr19:g.40900758C>T (hg19) ; chr19:g.40394851C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394851C>T , CM000681.2:g.40394851C>T	GRCh38
NC_000019.9:g.40900758C>T , CM000681.1:g.40900758C>T	GRCh37
NC_000019.8:g.45592598C>T	NCBI36
NG_007979.1:g.23514G>A , LRG_265:g.23514G>A
NG_051224.1:g.371G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3501G>A MANE Select	ENSP00000326018.6:p.Gly1167=
ENST00000673881.1:c.3084G>A	ENSP00000501070.1:p.Gly1028=
ENST00000674005.2:c.3786G>A	ENSP00000501261.1:p.Gly1262=
ENST00000674773.1:c.3084G>A	ENSP00000502579.1:p.Gly1028=
ENST00000675517.1:c.3376G>A
ENST00000676076.1:c.3362G>A
ENST00000676260.1:c.3463G>A
ENST00000676316.1:c.3388G>A
ENST00000291825.11:c.*3706G>A	ENSP00000291825.6:n.*3706G>A
ENST00000324001.7:c.3501G>A	ENSP00000326018.6:p.Gly1167=
NM_020956.2:c.*3706G>A , LRG_265t1:c.*3706G>A	NP_066007.1:n.*3706G>A
NM_181882.2:c.3501G>A , LRG_265t2:c.3501G>A	NP_870998.2:p.Gly1167=
XM_011527171.1:c.3501G>A	XP_011525473.1:p.Gly1167=
XM_011527171.2:c.3501G>A	XP_011525473.1:p.Gly1167=
XM_017027046.1:c.3399G>A	XP_016882535.1:p.Gly1133=
XM_017027047.1:c.3399G>A	XP_016882536.1:p.Gly1133=
NM_181882.3:c.3501G>A MANE Select	NP_870998.2:p.Gly1167=