Canonical Allele Identifier: CA343259774

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282056T>A , CM000663.2:g.160282056T>A	GRCh38
NC_000001.10:g.160251846T>A , CM000663.1:g.160251846T>A	GRCh37
NC_000001.9:g.158518470T>A	NCBI36
NG_008637.1:g.8096A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.577A>T MANE Select	NP_002848.1:p.Lys193Ter
ENST00000368072.10:c.577A>T MANE Select	ENSP00000357051.5:p.Lys193Ter
NM_001193644.1:c.577A>T	NP_001180573.1:p.Lys193Ter
NM_002857.3:c.577A>T	NP_002848.1:p.Lys193Ter
NR_036492.1:n.494A>T
NR_036492.2:n.476A>T
NR_036493.1:n.518A>T
NR_036493.2:n.500A>T
ENST00000368072.9:c.577A>T	ENSP00000357051.5:p.Lys193Ter
ENST00000392220.2:c.517A>T	ENSP00000376054.2:p.Lys173Ter
ENST00000462644.5:c.431A>T	ENSP00000435896.1:p.Glu144Val
ENST00000472750.5:c.*344A>T	ENSP00000434633.1:n.*344A>T
ENST00000485079.1:c.187A>T	ENSP00000450870.1:p.Lys63Ter
ENST00000495624.1:c.89A>T
ENST00000532508.5:n.549A>T
ENST00000532516.1:n.464A>T
ENST00000532643.5:c.491A>T	ENSP00000435915.1:p.Glu164Val
ENST00000556710.5:c.136A>T	ENSP00000451235.1:p.Lys46Ter
ENST00000556710.6:c.*258A>T	ENSP00000451235.2:n.*258A>T