Canonical Allele Identifier: CA346944036
Gene: PEX13 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031935A>C , CM000664.2:g.61031935A>C GRCh38
NC_000002.11:g.61259070A>C , CM000664.1:g.61259070A>C GRCh37
NC_000002.10:g.61112574A>C NCBI36
NG_008665.1:g.19259A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.609A>C MANE Select ENSP00000295030.4:p.Arg203Ser
ENST00000295030.5:c.609A>C ENSP00000295030.4:p.Arg203Ser
NM_002618.3:c.609A>C NP_002609.1:p.Arg203Ser
XM_011532904.1:c.492A>C XP_011531206.1:p.Arg164Ser
NM_002618.4:c.609A>C MANE Select NP_002609.1:p.Arg203Ser