Canonical Allele Identifier: CA343263096

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283009A>T , CM000663.2:g.160283009A>T	GRCh38
NC_000001.10:g.160252799A>T , CM000663.1:g.160252799A>T	GRCh37
NC_000001.9:g.158519423A>T	NCBI36
NG_008637.1:g.7143T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.281T>A MANE Select	NP_002848.1:p.Leu94Ter
ENST00000368072.10:c.281T>A MANE Select	ENSP00000357051.5:p.Leu94Ter
NM_001193644.1:c.281T>A	NP_001180573.1:p.Leu94Ter
NM_002857.3:c.281T>A	NP_002848.1:p.Leu94Ter
NR_036492.1:n.198T>A
NR_036492.2:n.180T>A
NR_036493.1:n.308T>A
NR_036493.2:n.290T>A
ENST00000368072.9:c.281T>A	ENSP00000357051.5:p.Leu94Ter
ENST00000392220.2:c.221T>A	ENSP00000376054.2:p.Leu74Ter
ENST00000462644.5:c.221T>A	ENSP00000435896.1:p.Leu74Ter
ENST00000472750.5:c.*48T>A	ENSP00000434633.1:n.*48T>A
ENST00000524939.1:n.298T>A
ENST00000532508.5:n.253T>A
ENST00000532643.5:c.281T>A	ENSP00000435915.1:p.Leu94Ter
ENST00000533104.1:n.180T>A
ENST00000533699.5:n.275T>A
ENST00000556710.5:c.-75T>A	ENSP00000451235.1:n.-75T>A
ENST00000556710.6:c.*48T>A	ENSP00000451235.2:n.*48T>A