Canonical Allele Identifier: CA10615906

Gene: PEX13

Linked Data

• ClinVar Variation Id: 336703
• ClinVar RCV Id: RCV000261484 ; RCV003437072
• dbSNP Id: rs139999174
• gnomAD v2: 2-61278261-T-C
• gnomAD v3: 2-61051126-T-C
• gnomAD v4: 2-61051126-T-C
• MyVariant Identifiers: chr2:g.61278261T>C (hg19) ; chr2:g.61051126T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61051126T>C , CM000664.2:g.61051126T>C	GRCh38
NC_000002.11:g.61278261T>C , CM000664.1:g.61278261T>C	GRCh37
NC_000002.10:g.61131765T>C	NCBI36
NG_008665.1:g.38450T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.*2356T>C MANE Select	ENSP00000295030.4:n.*2356T>C
ENST00000295030.5:c.*2356T>C	ENSP00000295030.4:n.*2356T>C
NM_002618.3:c.*2356T>C	NP_002609.1:n.*2356T>C
NM_002618.4:c.*2356T>C MANE Select	NP_002609.1:n.*2356T>C