Canonical Allele Identifier: CA343255436

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160279592C>A , CM000663.2:g.160279592C>A	GRCh38
NC_000001.10:g.160249382C>A , CM000663.1:g.160249382C>A	GRCh37
NC_000001.9:g.158516006C>A	NCBI36
NG_008637.1:g.10560G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.859G>T MANE Select	NP_002848.1:p.Gly287Cys
ENST00000368072.10:c.859G>T MANE Select	ENSP00000357051.5:p.Gly287Cys
NM_001193644.1:c.817-10G>T	NP_001180573.1:n.817-10G>T
NM_002857.3:c.859G>T	NP_002848.1:p.Gly287Cys
NR_036492.1:n.776G>T
NR_036492.2:n.758G>T
NR_036493.1:n.800G>T
NR_036493.2:n.782G>T
ENST00000368072.9:c.859G>T	ENSP00000357051.5:p.Gly287Cys
ENST00000462644.5:c.*212G>T	ENSP00000435896.1:n.*212G>T
ENST00000467711.5:n.58+209G>T
ENST00000472750.5:c.*626G>T	ENSP00000434633.1:n.*626G>T
ENST00000485079.1:c.426+209G>T	ENSP00000450870.1:n.426+209G>T
ENST00000495624.1:c.537G>T
ENST00000532508.5:n.941G>T
ENST00000532643.5:c.*212G>T	ENSP00000435915.1:n.*212G>T
ENST00000556710.5:c.375+209G>T	ENSP00000451235.1:n.375+209G>T
ENST00000556710.6:c.*497+209G>T	ENSP00000451235.2:n.*497+209G>T
ENST00000647676.1:c.114+209G>T	ENSP00000497162.1:n.114+209G>T