Canonical Allele Identifier: CA1673278

Gene: PEX13

Linked Data

• ClinVar Variation Id: 500870
• ClinVar RCV Id: RCV000597196 ; RCV001078538 ; RCV004553331
• dbSNP Id: rs143972531
• ExAC: 2:61258786 C / T
• gnomAD v2: 2-61258786-C-T
• gnomAD v3: 2-61031651-C-T
• gnomAD v4: 2-61031651-C-T
• MyVariant Identifiers: chr2:g.61258786C>T (hg19) ; chr2:g.61031651C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61031651C>T , CM000664.2:g.61031651C>T	GRCh38
NC_000002.11:g.61258786C>T , CM000664.1:g.61258786C>T	GRCh37
NC_000002.10:g.61112290C>T	NCBI36
NG_008665.1:g.18975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.325C>T MANE Select	ENSP00000295030.4:p.Arg109Cys
ENST00000295030.5:c.325C>T	ENSP00000295030.4:p.Arg109Cys
ENST00000472678.1:n.388C>T
NM_002618.3:c.325C>T	NP_002609.1:p.Arg109Cys
XM_011532904.1:c.208C>T	XP_011531206.1:p.Arg70Cys
NM_002618.4:c.325C>T MANE Select	NP_002609.1:p.Arg109Cys