Canonical Allele Identifier: CA1673368

Gene: PEX13

Linked Data

• ClinVar Variation Id: 287094
• ClinVar RCV Id: RCV000493263 ; RCV001308586 ; RCV002285016 ; RCV002469099
• dbSNP Id: rs373118250
• ExAC: 2:61272953 C / T
• gnomAD v2: 2-61272953-C-T
• gnomAD v3: 2-61045818-C-T
• gnomAD v4: 2-61045818-C-T
• MyVariant Identifiers: chr2:g.61272953C>T (hg19) ; chr2:g.61045818C>T (hg38)

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