Canonical Allele Identifier: CA1197283

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160280174T>C , CM000663.2:g.160280174T>C	GRCh38
NC_000001.10:g.160249964T>C , CM000663.1:g.160249964T>C	GRCh37
NC_000001.9:g.158516588T>C	NCBI36
NG_008637.1:g.9978A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.667A>G MANE Select	NP_002848.1:p.Ser223Gly
ENST00000368072.10:c.667A>G MANE Select	ENSP00000357051.5:p.Ser223Gly
NM_001193644.1:c.667A>G	NP_001180573.1:p.Ser223Gly
NM_002857.3:c.667A>G	NP_002848.1:p.Ser223Gly
NR_036492.1:n.584A>G
NR_036492.2:n.566A>G
NR_036493.1:n.608A>G
NR_036493.2:n.590A>G
ENST00000368072.9:c.667A>G	ENSP00000357051.5:p.Ser223Gly
ENST00000392220.2:c.607A>G	ENSP00000376054.2:p.Ser203Gly
ENST00000462644.5:c.*20A>G	ENSP00000435896.1:n.*20A>G
ENST00000472750.5:c.*434A>G	ENSP00000434633.1:n.*434A>G
ENST00000485079.1:c.277A>G	ENSP00000450870.1:p.Ser93Gly
ENST00000495624.1:c.179A>G
ENST00000532508.5:n.749A>G
ENST00000532643.5:c.*20A>G	ENSP00000435915.1:n.*20A>G
ENST00000556710.5:c.226A>G	ENSP00000451235.1:p.Ser76Gly
ENST00000556710.6:c.*348A>G	ENSP00000451235.2:n.*348A>G