Canonical Allele Identifier: CA421362696

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283010A>G , CM000663.2:g.160283010A>G	GRCh38
NC_000001.10:g.160252800A>G , CM000663.1:g.160252800A>G	GRCh37
NC_000001.9:g.158519424A>G	NCBI36
NG_008637.1:g.7142T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.280T>C MANE Select	NP_002848.1:p.Leu94=
ENST00000368072.10:c.280T>C MANE Select	ENSP00000357051.5:p.Leu94=
NM_001193644.1:c.280T>C	NP_001180573.1:p.Leu94=
NM_002857.3:c.280T>C	NP_002848.1:p.Leu94=
NR_036492.1:n.197T>C
NR_036492.2:n.179T>C
NR_036493.1:n.307T>C
NR_036493.2:n.289T>C
ENST00000368072.9:c.280T>C	ENSP00000357051.5:p.Leu94=
ENST00000392220.2:c.220T>C	ENSP00000376054.2:p.Leu74=
ENST00000462644.5:c.220T>C	ENSP00000435896.1:p.Leu74=
ENST00000472750.5:c.*47T>C	ENSP00000434633.1:n.*47T>C
ENST00000524939.1:n.297T>C
ENST00000532508.5:n.252T>C
ENST00000532643.5:c.280T>C	ENSP00000435915.1:p.Leu94=
ENST00000533104.1:n.179T>C
ENST00000533699.5:n.274T>C
ENST00000556710.5:c.-76T>C	ENSP00000451235.1:n.-76T>C
ENST00000556710.6:c.*47T>C	ENSP00000451235.2:n.*47T>C