Canonical Allele Identifier: CA1673288

Gene: PEX13

Linked Data

• ClinVar Variation Id: 336667
• ClinVar RCV Id: RCV000594107 ; RCV000882202 ; RCV001081489 ; RCV004549765
• dbSNP Id: rs147707348
• ExAC: 2:61258816 G / A
• gnomAD v2: 2-61258816-G-A
• gnomAD v3: 2-61031681-G-A
• gnomAD v4: 2-61031681-G-A
• MyVariant Identifiers: chr2:g.61258816G>A (hg19) ; chr2:g.61031681G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61031681G>A , CM000664.2:g.61031681G>A	GRCh38
NC_000002.11:g.61258816G>A , CM000664.1:g.61258816G>A	GRCh37
NC_000002.10:g.61112320G>A	NCBI36
NG_008665.1:g.19005G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.355G>A MANE Select	ENSP00000295030.4:p.Val119Ile
ENST00000295030.5:c.355G>A	ENSP00000295030.4:p.Val119Ile
ENST00000472678.1:n.418G>A
NM_002618.3:c.355G>A	NP_002609.1:p.Val119Ile
XM_011532904.1:c.238G>A	XP_011531206.1:p.Val80Ile
NM_002618.4:c.355G>A MANE Select	NP_002609.1:p.Val119Ile