Canonical Allele Identifier: CA405897136

Gene: PRX

Linked Data

• MyVariant Identifiers: chr19:g.40902221G>T (hg19) ; chr19:g.40396314G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40396314G>T , CM000681.2:g.40396314G>T	GRCh38
NC_000019.9:g.40902221G>T , CM000681.1:g.40902221G>T	GRCh37
NC_000019.8:g.45594061G>T	NCBI36
NG_007979.1:g.22051C>A , LRG_265:g.22051C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324001.8:c.2038C>A MANE Select	ENSP00000326018.6:p.Leu680Ile
ENST00000673881.1:c.1621C>A	ENSP00000501070.1:p.Leu541Ile
ENST00000674005.2:c.2323C>A	ENSP00000501261.1:p.Leu775Ile
ENST00000674773.1:c.1621C>A	ENSP00000502579.1:p.Leu541Ile
ENST00000675517.1:c.1913C>A
ENST00000676076.1:c.1899C>A
ENST00000676260.1:c.2000C>A
ENST00000676316.1:c.1925C>A
ENST00000291825.11:c.*2243C>A	ENSP00000291825.6:n.*2243C>A
ENST00000324001.7:c.2038C>A	ENSP00000326018.6:p.Leu680Ile
NM_020956.2:c.*2243C>A , LRG_265t1:c.*2243C>A	NP_066007.1:n.*2243C>A
NM_181882.2:c.2038C>A , LRG_265t2:c.2038C>A	NP_870998.2:p.Leu680Ile
XM_011527171.1:c.2038C>A	XP_011525473.1:p.Leu680Ile
XM_011527171.2:c.2038C>A	XP_011525473.1:p.Leu680Ile
XM_017027046.1:c.1936C>A	XP_016882535.1:p.Leu646Ile
XM_017027047.1:c.1936C>A	XP_016882536.1:p.Leu646Ile
NM_181882.3:c.2038C>A MANE Select	NP_870998.2:p.Leu680Ile