Canonical Allele Identifier: CA343259663

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282038C>G , CM000663.2:g.160282038C>G	GRCh38
NC_000001.10:g.160251828C>G , CM000663.1:g.160251828C>G	GRCh37
NC_000001.9:g.158518452C>G	NCBI36
NG_008637.1:g.8114G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.594+1G>C MANE Select	NP_002848.1:n.594+1G>C
ENST00000368072.10:c.594+1G>C MANE Select	ENSP00000357051.5:n.594+1G>C
NM_001193644.1:c.594+1G>C	NP_001180573.1:n.594+1G>C
NM_002857.3:c.594+1G>C	NP_002848.1:n.594+1G>C
NR_036492.1:n.511+1G>C
NR_036492.2:n.493+1G>C
NR_036493.1:n.535+1G>C
NR_036493.2:n.517+1G>C
ENST00000368072.9:c.594+1G>C	ENSP00000357051.5:n.594+1G>C
ENST00000392220.2:c.534+1G>C	ENSP00000376054.2:n.534+1G>C
ENST00000462644.5:c.448+1G>C	ENSP00000435896.1:n.448+1G>C
ENST00000472750.5:c.*361+1G>C	ENSP00000434633.1:n.*361+1G>C
ENST00000485079.1:c.204+1G>C	ENSP00000450870.1:n.204+1G>C
ENST00000495624.1:c.106+1G>C
ENST00000532508.5:n.566+1G>C
ENST00000532516.1:n.481+1G>C
ENST00000532643.5:c.508+1G>C	ENSP00000435915.1:n.508+1G>C
ENST00000556710.5:c.153+1G>C	ENSP00000451235.1:n.153+1G>C
ENST00000556710.6:c.*275+1G>C	ENSP00000451235.2:n.*275+1G>C