Canonical Allele Identifier: CA343261680

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282465G>C , CM000663.2:g.160282465G>C	GRCh38
NC_000001.10:g.160252255G>C , CM000663.1:g.160252255G>C	GRCh37
NC_000001.9:g.158518879G>C	NCBI36
NG_008637.1:g.7687C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.384C>G MANE Select	NP_002848.1:p.Cys128Trp
ENST00000368072.10:c.384C>G MANE Select	ENSP00000357051.5:p.Cys128Trp
NM_001193644.1:c.384C>G	NP_001180573.1:p.Cys128Trp
NM_002857.3:c.384C>G	NP_002848.1:p.Cys128Trp
NR_036492.1:n.301C>G
NR_036492.2:n.283C>G
NR_036493.1:n.374-265C>G
NR_036493.2:n.356-265C>G
ENST00000368072.9:c.384C>G	ENSP00000357051.5:p.Cys128Trp
ENST00000392220.2:c.324C>G	ENSP00000376054.2:p.Cys108Trp
ENST00000462644.5:c.287-265C>G	ENSP00000435896.1:n.287-265C>G
ENST00000472750.5:c.*151C>G	ENSP00000434633.1:n.*151C>G
ENST00000524939.1:n.401C>G
ENST00000532508.5:n.356C>G
ENST00000532516.1:n.55C>G
ENST00000532643.5:c.347-265C>G	ENSP00000435915.1:n.347-265C>G
ENST00000533104.1:n.401C>G
ENST00000533699.5:n.378C>G
ENST00000556710.5:c.-9-265C>G	ENSP00000451235.1:n.-9-265C>G
ENST00000556710.6:c.*114-265C>G	ENSP00000451235.2:n.*114-265C>G