Canonical Allele Identifier: CA243275
Gene: PEX13 HGNC NCBI

Linked Data

ClinVar Variation Id: 196352
ClinVar RCV Id: RCV000177163 RCV000981678 RCV001250088 RCV003927639
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)
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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
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