Canonical Allele Identifier: CA346944013
Gene: PEX13 HGNC NCBI

Linked Data

dbSNP Id: rs1680458302
MyVariant Identifiers: chr2:g.61259065A>T (hg19) chr2:g.61031930A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031930A>T , CM000664.2:g.61031930A>T GRCh38
NC_000002.11:g.61259065A>T , CM000664.1:g.61259065A>T GRCh37
NC_000002.10:g.61112569A>T NCBI36
NG_008665.1:g.19254A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.604A>T MANE Select ENSP00000295030.4:p.Arg202Ter
ENST00000295030.5:c.604A>T ENSP00000295030.4:p.Arg202Ter
NM_002618.3:c.604A>T NP_002609.1:p.Arg202Ter
XM_011532904.1:c.487A>T XP_011531206.1:p.Arg163Ter
NM_002618.4:c.604A>T MANE Select NP_002609.1:p.Arg202Ter
Search 100 bp 5'
Search 100 bp 3'