Canonical Allele Identifier: CA343255155

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160279573C>T , CM000663.2:g.160279573C>T	GRCh38
NC_000001.10:g.160249363C>T , CM000663.1:g.160249363C>T	GRCh37
NC_000001.9:g.158515987C>T	NCBI36
NG_008637.1:g.10579G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.878G>A MANE Select	NP_002848.1:p.Gly293Asp
ENST00000368072.10:c.878G>A MANE Select	ENSP00000357051.5:p.Gly293Asp
NM_001193644.1:c.826G>A	NP_001180573.1:p.Val276Met
NM_002857.3:c.878G>A	NP_002848.1:p.Gly293Asp
NR_036492.1:n.795G>A
NR_036492.2:n.777G>A
NR_036493.1:n.819G>A
NR_036493.2:n.801G>A
ENST00000368072.9:c.878G>A	ENSP00000357051.5:p.Gly293Asp
ENST00000462644.5:c.*231G>A	ENSP00000435896.1:n.*231G>A
ENST00000467711.5:n.58+228G>A
ENST00000472750.5:c.*645G>A	ENSP00000434633.1:n.*645G>A
ENST00000485079.1:c.426+228G>A	ENSP00000450870.1:n.426+228G>A
ENST00000495624.1:c.556G>A
ENST00000532508.5:n.960G>A
ENST00000532643.5:c.*231G>A	ENSP00000435915.1:n.*231G>A
ENST00000556710.5:c.375+228G>A	ENSP00000451235.1:n.375+228G>A
ENST00000556710.6:c.*497+228G>A	ENSP00000451235.2:n.*497+228G>A
ENST00000647676.1:c.114+228G>A	ENSP00000497162.1:n.114+228G>A