Canonical Allele Identifier: CA1673368
Gene: PEX13 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.61045818C>T
GRCh37 chr2:g.61272953C>T
Revel Score:
ENST00000295030 (MANE Select) 0.394
gnomAD v2:
2:61272953 C / T
gnomAD v3:
2:61045818 C / T
gnomAD v4:
chr2-61045818-C-T
Joint Max Group AF 0.00053503 (SAS)
Genomes Max Group AF 0.00028344 (SAS)
Exomes Max Group AF 0.00052356 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61045818C>T , CM000664.2:g.61045818C>T GRCh38
NC_000002.11:g.61272953C>T , CM000664.1:g.61272953C>T GRCh37
NC_000002.10:g.61126457C>T NCBI36
NG_008665.1:g.33142C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000295030.6:c.880C>T MANE Select ENSP00000295030.4:p.Arg294Trp
ENST00000295030.5:c.880C>T ENSP00000295030.4:p.Arg294Trp
NM_002618.3:c.880C>T NP_002609.1:p.Arg294Trp
XM_011532904.1:c.763C>T XP_011531206.1:p.Arg255Trp
NM_002618.4:c.880C>T MANE Select NP_002609.1:p.Arg294Trp
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