Canonical Allele Identifier: CA1673247

Gene: PEX13

Linked Data

• ClinVar Variation Id: 289192
• ClinVar RCV Id: RCV000318147 ; RCV001057894 ; RCV004549611
• dbSNP Id: rs60203778
• ExAC: 2:61258603 C / T
• gnomAD v2: 2-61258603-C-T
• gnomAD v3: 2-61031468-C-T
• gnomAD v4: 2-61031468-C-T
• MyVariant Identifiers: chr2:g.61258603C>T (hg19) ; chr2:g.61031468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61031468C>T , CM000664.2:g.61031468C>T	GRCh38
NC_000002.11:g.61258603C>T , CM000664.1:g.61258603C>T	GRCh37
NC_000002.10:g.61112107C>T	NCBI36
NG_008665.1:g.18792C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.142C>T MANE Select	ENSP00000295030.4:p.Leu48Phe
ENST00000295030.5:c.142C>T	ENSP00000295030.4:p.Leu48Phe
ENST00000472678.1:n.205C>T
NM_002618.3:c.142C>T	NP_002609.1:p.Leu48Phe
XM_011532904.1:c.25C>T	XP_011531206.1:p.Leu9Phe
NM_002618.4:c.142C>T MANE Select	NP_002609.1:p.Leu48Phe