Canonical Allele Identifier: CA346944509
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259164C>T (hg19) chr2:g.61032029C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032029C>T , CM000664.2:g.61032029C>T GRCh38
NC_000002.11:g.61259164C>T , CM000664.1:g.61259164C>T GRCh37
NC_000002.10:g.61112668C>T NCBI36
NG_008665.1:g.19353C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.703C>T MANE Select ENSP00000295030.4:p.Pro235Ser
ENST00000295030.5:c.703C>T ENSP00000295030.4:p.Pro235Ser
NM_002618.3:c.703C>T NP_002609.1:p.Pro235Ser
XM_011532904.1:c.586C>T XP_011531206.1:p.Pro196Ser
NM_002618.4:c.703C>T MANE Select NP_002609.1:p.Pro235Ser
Search 100 bp 5'
Search 100 bp 3'