Canonical Allele Identifier: CA1197508

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160285079T>A , CM000663.2:g.160285079T>A	GRCh38
NC_000001.10:g.160254869T>A , CM000663.1:g.160254869T>A	GRCh37
NC_000001.9:g.158521493T>A	NCBI36
NG_008637.1:g.5073A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.46A>T MANE Select	NP_002848.1:p.Arg16Trp
ENST00000368072.10:c.46A>T MANE Select	ENSP00000357051.5:p.Arg16Trp
NM_001193644.1:c.46A>T	NP_001180573.1:p.Arg16Trp
NM_002857.3:c.46A>T	NP_002848.1:p.Arg16Trp
NR_036492.1:n.73A>T
NR_036492.2:n.55A>T
NR_036493.1:n.73A>T
NR_036493.2:n.55A>T
ENST00000368072.9:c.46A>T	ENSP00000357051.5:p.Arg16Trp
ENST00000472750.5:c.46A>T	ENSP00000434633.1:p.Arg16Trp
ENST00000524939.1:n.63A>T
ENST00000532508.5:n.18A>T
ENST00000532643.5:c.46A>T	ENSP00000435915.1:p.Arg16Trp
ENST00000533104.1:n.55A>T
ENST00000533699.5:n.64+1206A>T
ENST00000556710.5:c.-200A>T	ENSP00000451235.1:n.-200A>T
ENST00000556710.6:c.46A>T	ENSP00000451235.2:p.Arg16Trp
XR_001738265.1:n.88+224T>A