Canonical Allele Identifier: CA343260334

Gene: PEX19

Linked Data

• MyVariant Identifiers: chr1:g.160251925A>T (hg19) ; chr1:g.160282135A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282135A>T , CM000663.2:g.160282135A>T	GRCh38
NC_000001.10:g.160251925A>T , CM000663.1:g.160251925A>T	GRCh37
NC_000001.9:g.158518549A>T	NCBI36
NG_008637.1:g.8017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.498T>A MANE Select	ENSP00000357051.5:p.Asp166Glu
ENST00000556710.6:c.*179T>A	ENSP00000451235.2:n.*179T>A
ENST00000368072.9:c.498T>A	ENSP00000357051.5:p.Asp166Glu
ENST00000392220.2:c.438T>A	ENSP00000376054.2:p.Asp146Glu
ENST00000462644.5:c.352T>A	ENSP00000435896.1:p.Trp118Arg
ENST00000472750.5:c.*265T>A	ENSP00000434633.1:n.*265T>A
ENST00000485079.1:c.108T>A	ENSP00000450870.1:p.Asp36Glu
ENST00000495624.1:c.10T>A
ENST00000532508.5:n.470T>A
ENST00000532516.1:n.385T>A
ENST00000532643.5:c.412T>A	ENSP00000435915.1:p.Trp138Arg
ENST00000533104.1:n.515T>A
ENST00000533699.5:n.492T>A
ENST00000556710.5:c.57T>A	ENSP00000451235.1:p.Asp19Glu
NM_001193644.1:c.498T>A	NP_001180573.1:p.Asp166Glu
NM_002857.3:c.498T>A	NP_002848.1:p.Asp166Glu
NR_036492.1:n.415T>A
NR_036493.1:n.439T>A
NM_002857.4:c.498T>A MANE Select	NP_002848.1:p.Asp166Glu
NR_036492.2:n.397T>A
NR_036493.2:n.421T>A