Canonical Allele Identifier: CA346944514
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259165C>T (hg19) chr2:g.61032030C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032030C>T , CM000664.2:g.61032030C>T GRCh38
NC_000002.11:g.61259165C>T , CM000664.1:g.61259165C>T GRCh37
NC_000002.10:g.61112669C>T NCBI36
NG_008665.1:g.19354C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.704C>T MANE Select ENSP00000295030.4:p.Pro235Leu
ENST00000295030.5:c.704C>T ENSP00000295030.4:p.Pro235Leu
NM_002618.3:c.704C>T NP_002609.1:p.Pro235Leu
XM_011532904.1:c.587C>T XP_011531206.1:p.Pro196Leu
NM_002618.4:c.704C>T MANE Select NP_002609.1:p.Pro235Leu
Search 100 bp 5'
Search 100 bp 3'