Canonical Allele Identifier: CA405893664

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40900816A>G (hg19) ; chr19:g.40394909A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40394909A>G , CM000681.2:g.40394909A>G	GRCh38
NC_000019.9:g.40900816A>G , CM000681.1:g.40900816A>G	GRCh37
NC_000019.8:g.45592656A>G	NCBI36
NG_007979.1:g.23456T>C , LRG_265:g.23456T>C
NG_051224.1:g.313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324001.8:c.3443T>C MANE Select	ENSP00000326018.6:p.Leu1148Pro
ENST00000673881.1:c.3026T>C	ENSP00000501070.1:p.Leu1009Pro
ENST00000674005.2:c.3728T>C	ENSP00000501261.1:p.Leu1243Pro
ENST00000674773.1:c.3026T>C	ENSP00000502579.1:p.Leu1009Pro
ENST00000675517.1:c.3318T>C
ENST00000676076.1:c.3304T>C
ENST00000676260.1:c.3405T>C
ENST00000676316.1:c.3330T>C
ENST00000291825.11:c.*3648T>C	ENSP00000291825.6:n.*3648T>C
ENST00000324001.7:c.3443T>C	ENSP00000326018.6:p.Leu1148Pro
NM_020956.2:c.*3648T>C , LRG_265t1:c.*3648T>C	NP_066007.1:n.*3648T>C
NM_181882.2:c.3443T>C , LRG_265t2:c.3443T>C	NP_870998.2:p.Leu1148Pro
XM_011527171.1:c.3443T>C	XP_011525473.1:p.Leu1148Pro
XM_011527171.2:c.3443T>C	XP_011525473.1:p.Leu1148Pro
XM_017027046.1:c.3341T>C	XP_016882535.1:p.Leu1114Pro
XM_017027047.1:c.3341T>C	XP_016882536.1:p.Leu1114Pro
NM_181882.3:c.3443T>C MANE Select	NP_870998.2:p.Leu1148Pro