Canonical Allele Identifier: CA405893690

Gene: PRX

Linked Data

• dbSNP Id: rs1434895762
• gnomAD v2: 19-40900823-G-C
• gnomAD v4: 19-40394916-G-C
• MyVariant Identifiers: chr19:g.40900823G>C (hg19) ; chr19:g.40394916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394916G>C , CM000681.2:g.40394916G>C	GRCh38
NC_000019.9:g.40900823G>C , CM000681.1:g.40900823G>C	GRCh37
NC_000019.8:g.45592663G>C	NCBI36
NG_007979.1:g.23449C>G , LRG_265:g.23449C>G
NG_051224.1:g.306C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3436C>G MANE Select	ENSP00000326018.6:p.Pro1146Ala
ENST00000673881.1:c.3019C>G	ENSP00000501070.1:p.Pro1007Ala
ENST00000674005.2:c.3721C>G	ENSP00000501261.1:p.Pro1241Ala
ENST00000674773.1:c.3019C>G	ENSP00000502579.1:p.Pro1007Ala
ENST00000675517.1:c.3311C>G
ENST00000676076.1:c.3297C>G
ENST00000676260.1:c.3398C>G
ENST00000676316.1:c.3323C>G
ENST00000291825.11:c.*3641C>G	ENSP00000291825.6:n.*3641C>G
ENST00000324001.7:c.3436C>G	ENSP00000326018.6:p.Pro1146Ala
NM_020956.2:c.*3641C>G , LRG_265t1:c.*3641C>G	NP_066007.1:n.*3641C>G
NM_181882.2:c.3436C>G , LRG_265t2:c.3436C>G	NP_870998.2:p.Pro1146Ala
XM_011527171.1:c.3436C>G	XP_011525473.1:p.Pro1146Ala
XM_011527171.2:c.3436C>G	XP_011525473.1:p.Pro1146Ala
XM_017027046.1:c.3334C>G	XP_016882535.1:p.Pro1112Ala
XM_017027047.1:c.3334C>G	XP_016882536.1:p.Pro1112Ala
NM_181882.3:c.3436C>G MANE Select	NP_870998.2:p.Pro1146Ala