Canonical Allele Identifier: CA346944032
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259069G>T (hg19) chr2:g.61031934G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031934G>T , CM000664.2:g.61031934G>T GRCh38
NC_000002.11:g.61259069G>T , CM000664.1:g.61259069G>T GRCh37
NC_000002.10:g.61112573G>T NCBI36
NG_008665.1:g.19258G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.608G>T MANE Select ENSP00000295030.4:p.Arg203Ile
ENST00000295030.5:c.608G>T ENSP00000295030.4:p.Arg203Ile
NM_002618.3:c.608G>T NP_002609.1:p.Arg203Ile
XM_011532904.1:c.491G>T XP_011531206.1:p.Arg164Ile
NM_002618.4:c.608G>T MANE Select NP_002609.1:p.Arg203Ile
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