Canonical Allele Identifier: CA1197411

Gene: PEX19

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282985A>G , CM000663.2:g.160282985A>G	GRCh38
NC_000001.10:g.160252775A>G , CM000663.1:g.160252775A>G	GRCh37
NC_000001.9:g.158519399A>G	NCBI36
NG_008637.1:g.7167T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002857.4:c.305T>C MANE Select	NP_002848.1:p.Val102Ala
ENST00000368072.10:c.305T>C MANE Select	ENSP00000357051.5:p.Val102Ala
NM_001193644.1:c.305T>C	NP_001180573.1:p.Val102Ala
NM_002857.3:c.305T>C	NP_002848.1:p.Val102Ala
NR_036492.1:n.222T>C
NR_036492.2:n.204T>C
NR_036493.1:n.332T>C
NR_036493.2:n.314T>C
ENST00000368072.9:c.305T>C	ENSP00000357051.5:p.Val102Ala
ENST00000392220.2:c.245T>C	ENSP00000376054.2:p.Val82Ala
ENST00000462644.5:c.245T>C	ENSP00000435896.1:p.Val82Ala
ENST00000472750.5:c.*72T>C	ENSP00000434633.1:n.*72T>C
ENST00000524939.1:n.322T>C
ENST00000532508.5:n.277T>C
ENST00000532643.5:c.305T>C	ENSP00000435915.1:p.Val102Ala
ENST00000533104.1:n.204T>C
ENST00000533699.5:n.299T>C
ENST00000556710.5:c.-51T>C	ENSP00000451235.1:n.-51T>C
ENST00000556710.6:c.*72T>C	ENSP00000451235.2:n.*72T>C