Canonical Allele Identifier: CA1197240
Gene: PEX19 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160279853A>G , CM000663.2:g.160279853A>G GRCh38
NC_000001.10:g.160249643A>G , CM000663.1:g.160249643A>G GRCh37
NC_000001.9:g.158516267A>G NCBI36
NG_008637.1:g.10299T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368072.10:c.772-8T>C MANE Select ENSP00000357051.5:n.772-8T>C
ENST00000556710.6:c.*453-8T>C ENSP00000451235.2:n.*453-8T>C
ENST00000647676.1:c.70-8T>C ENSP00000497162.1:n.70-8T>C
ENST00000368072.9:c.772-8T>C ENSP00000357051.5:n.772-8T>C
ENST00000462644.5:c.*125-8T>C ENSP00000435896.1:n.*125-8T>C
ENST00000467711.5:n.14-8T>C
ENST00000472750.5:c.*539-8T>C ENSP00000434633.1:n.*539-8T>C
ENST00000485079.1:c.382-8T>C ENSP00000450870.1:n.382-8T>C
ENST00000495624.1:c.284-8T>C
ENST00000532508.5:n.854-8T>C
ENST00000532643.5:c.*125-8T>C ENSP00000435915.1:n.*125-8T>C
ENST00000556710.5:c.331-8T>C ENSP00000451235.1:n.331-8T>C
NM_001193644.1:c.772-8T>C NP_001180573.1:n.772-8T>C
NM_002857.3:c.772-8T>C NP_002848.1:n.772-8T>C
NR_036492.1:n.689-8T>C
NR_036493.1:n.713-8T>C
NM_002857.4:c.772-8T>C MANE Select NP_002848.1:n.772-8T>C
NR_036492.2:n.671-8T>C
NR_036493.2:n.695-8T>C