Canonical Allele Identifier: CA1197520
Gene: PEX19 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.160285109C>T
GRCh37 chr1:g.160254899C>T
Revel Score:
ENST00000368072 (MANE Select) 0.049
gnomAD v2:
1:160254899 C / T
gnomAD v3:
1:160285109 C / T
gnomAD v4:
chr1-160285109-C-T
Joint Max Group AF 0.00086906 (NFE)
Genomes Max Group AF 0.00108785 (NFE)
Exomes Max Group AF 0.00084407 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160285109C>T , CM000663.2:g.160285109C>T GRCh38
NC_000001.10:g.160254899C>T , CM000663.1:g.160254899C>T GRCh37
NC_000001.9:g.158521523C>T NCBI36
NG_008637.1:g.5043G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368072.10:c.16G>A MANE Select ENSP00000357051.5:p.Glu6Lys
ENST00000556710.6:c.16G>A ENSP00000451235.2:p.Glu6Lys
ENST00000368072.9:c.16G>A ENSP00000357051.5:p.Glu6Lys
ENST00000472750.5:c.16G>A ENSP00000434633.1:p.Glu6Lys
ENST00000524939.1:n.33G>A
ENST00000532643.5:c.16G>A ENSP00000435915.1:p.Glu6Lys
ENST00000533104.1:n.25G>A
ENST00000533699.5:n.64+1176G>A
ENST00000556710.5:c.-230G>A ENSP00000451235.1:n.-230G>A
NM_001193644.1:c.16G>A NP_001180573.1:p.Glu6Lys
NM_002857.3:c.16G>A NP_002848.1:p.Glu6Lys
NR_036492.1:n.43G>A
NR_036493.1:n.43G>A
XR_001738265.1:n.88+254C>T
NM_002857.4:c.16G>A MANE Select NP_002848.1:p.Glu6Lys
NR_036492.2:n.25G>A
NR_036493.2:n.25G>A
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