Canonical Allele Identifier: CA346944023
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259067A>T (hg19) chr2:g.61031932A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031932A>T , CM000664.2:g.61031932A>T GRCh38
NC_000002.11:g.61259067A>T , CM000664.1:g.61259067A>T GRCh37
NC_000002.10:g.61112571A>T NCBI36
NG_008665.1:g.19256A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.606A>T MANE Select ENSP00000295030.4:p.Arg202Ser
ENST00000295030.5:c.606A>T ENSP00000295030.4:p.Arg202Ser
NM_002618.3:c.606A>T NP_002609.1:p.Arg202Ser
XM_011532904.1:c.489A>T XP_011531206.1:p.Arg163Ser
NM_002618.4:c.606A>T MANE Select NP_002609.1:p.Arg202Ser
Search 100 bp 5'
Search 100 bp 3'