Canonical Allele Identifier: CA1673414

Gene: PEX13

Linked Data

• ClinVar Variation Id: 502787
• ClinVar RCV Id: RCV000595198 ; RCV002065185
• dbSNP Id: rs748712609
• ExAC: 2:61275707 A / G
• gnomAD v2: 2-61275707-A-G
• gnomAD v3: 2-61048572-A-G
• gnomAD v4: 2-61048572-A-G
• MyVariant Identifiers: chr2:g.61275707A>G (hg19) ; chr2:g.61048572A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61048572A>G , CM000664.2:g.61048572A>G	GRCh38
NC_000002.11:g.61275707A>G , CM000664.1:g.61275707A>G	GRCh37
NC_000002.10:g.61129211A>G	NCBI36
NG_008665.1:g.35896A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.1014A>G MANE Select	ENSP00000295030.4:p.Lys338=
ENST00000295030.5:c.1014A>G	ENSP00000295030.4:p.Lys338=
NM_002618.3:c.1014A>G	NP_002609.1:p.Lys338=
XM_011532904.1:c.897A>G	XP_011531206.1:p.Lys299=
NM_002618.4:c.1014A>G MANE Select	NP_002609.1:p.Lys338=