Canonical Allele Identifier: CA1197378

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282480T>C , CM000663.2:g.160282480T>C	GRCh38
NC_000001.10:g.160252270T>C , CM000663.1:g.160252270T>C	GRCh37
NC_000001.9:g.158518894T>C	NCBI36
NG_008637.1:g.7672A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.369A>G MANE Select	NP_002848.1:p.Gln123=
ENST00000368072.10:c.369A>G MANE Select	ENSP00000357051.5:p.Gln123=
NM_001193644.1:c.369A>G	NP_001180573.1:p.Gln123=
NM_002857.3:c.369A>G	NP_002848.1:p.Gln123=
NR_036492.1:n.286A>G
NR_036492.2:n.268A>G
NR_036493.1:n.374-280A>G
NR_036493.2:n.356-280A>G
ENST00000368072.9:c.369A>G	ENSP00000357051.5:p.Gln123=
ENST00000392220.2:c.309A>G	ENSP00000376054.2:p.Gln103=
ENST00000462644.5:c.287-280A>G	ENSP00000435896.1:n.287-280A>G
ENST00000472750.5:c.*136A>G	ENSP00000434633.1:n.*136A>G
ENST00000524939.1:n.386A>G
ENST00000532508.5:n.341A>G
ENST00000532516.1:n.40A>G
ENST00000532643.5:c.347-280A>G	ENSP00000435915.1:n.347-280A>G
ENST00000533104.1:n.386A>G
ENST00000533699.5:n.363A>G
ENST00000556710.5:c.-9-280A>G	ENSP00000451235.1:n.-9-280A>G
ENST00000556710.6:c.*114-280A>G	ENSP00000451235.2:n.*114-280A>G