Canonical Allele Identifier: CA1673287

Gene: PEX13

Linked Data

• ClinVar Variation Id: 498549
• ClinVar RCV Id: RCV000595614 ; RCV001089344 ; RCV004553314
• dbSNP Id: rs143378216
• ExAC: 2:61258815 T / C
• gnomAD v2: 2-61258815-T-C
• gnomAD v3: 2-61031680-T-C
• gnomAD v4: 2-61031680-T-C
• MyVariant Identifiers: chr2:g.61258815T>C (hg19) ; chr2:g.61031680T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61031680T>C , CM000664.2:g.61031680T>C	GRCh38
NC_000002.11:g.61258815T>C , CM000664.1:g.61258815T>C	GRCh37
NC_000002.10:g.61112319T>C	NCBI36
NG_008665.1:g.19004T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.354T>C MANE Select	ENSP00000295030.4:p.Phe118=
ENST00000295030.5:c.354T>C	ENSP00000295030.4:p.Phe118=
ENST00000472678.1:n.417T>C
NM_002618.3:c.354T>C	NP_002609.1:p.Phe118=
XM_011532904.1:c.237T>C	XP_011531206.1:p.Phe79=
NM_002618.4:c.354T>C MANE Select	NP_002609.1:p.Phe118=