Canonical Allele Identifier: CA243275

Gene: PEX13

Linked Data

• ClinVar Variation Id: 196352
• ClinVar RCV Id: RCV000177163 ; RCV000981678 ; RCV001250088 ; RCV004552990
• dbSNP Id: rs138545154
• ExAC: 2:61272966 T / C
• gnomAD v2: 2-61272966-T-C
• gnomAD v3: 2-61045831-T-C
• gnomAD v4: 2-61045831-T-C
• MyVariant Identifiers: chr2:g.61272966T>C (hg19) ; chr2:g.61045831T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.61045831T>C , CM000664.2:g.61045831T>C	GRCh38
NC_000002.11:g.61272966T>C , CM000664.1:g.61272966T>C	GRCh37
NC_000002.10:g.61126470T>C	NCBI36
NG_008665.1:g.33155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295030.6:c.893T>C MANE Select	ENSP00000295030.4:p.Met298Thr
ENST00000295030.5:c.893T>C	ENSP00000295030.4:p.Met298Thr
NM_002618.3:c.893T>C	NP_002609.1:p.Met298Thr
XM_011532904.1:c.776T>C	XP_011531206.1:p.Met259Thr
NM_002618.4:c.893T>C MANE Select	NP_002609.1:p.Met298Thr