Canonical Allele Identifier: CA1673291

Gene: PEX13

Linked Data

• ClinVar Variation Id: 522751
• ClinVar RCV Id: RCV000625910 ; RCV001815420 ; RCV004547762
• dbSNP Id: rs554152771
• ExAC: 2:61258844 G / T
• gnomAD v2: 2-61258844-G-T
• gnomAD v3: 2-61031709-G-T
• gnomAD v4: 2-61031709-G-T
• MyVariant Identifiers: chr2:g.61258844G>T (hg19) ; chr2:g.61031709G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61031709G>T , CM000664.2:g.61031709G>T	GRCh38
NC_000002.11:g.61258844G>T , CM000664.1:g.61258844G>T	GRCh37
NC_000002.10:g.61112348G>T	NCBI36
NG_008665.1:g.19033G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.383G>T MANE Select	ENSP00000295030.4:p.Gly128Val
ENST00000295030.5:c.383G>T	ENSP00000295030.4:p.Gly128Val
ENST00000472678.1:n.446G>T
NM_002618.3:c.383G>T	NP_002609.1:p.Gly128Val
XM_011532904.1:c.266G>T	XP_011531206.1:p.Gly89Val
NM_002618.4:c.383G>T MANE Select	NP_002609.1:p.Gly128Val