Canonical Allele Identifier: CA346944026
Gene: PEX13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031933A>T , CM000664.2:g.61031933A>T GRCh38
NC_000002.11:g.61259068A>T , CM000664.1:g.61259068A>T GRCh37
NC_000002.10:g.61112572A>T NCBI36
NG_008665.1:g.19257A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.607A>T MANE Select ENSP00000295030.4:p.Arg203Ter
ENST00000295030.5:c.607A>T ENSP00000295030.4:p.Arg203Ter
NM_002618.3:c.607A>T NP_002609.1:p.Arg203Ter
XM_011532904.1:c.490A>T XP_011531206.1:p.Arg164Ter
NM_002618.4:c.607A>T MANE Select NP_002609.1:p.Arg203Ter