Canonical Allele Identifier: CA346944524
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259167A>T (hg19) chr2:g.61032032A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032032A>T , CM000664.2:g.61032032A>T GRCh38
NC_000002.11:g.61259167A>T , CM000664.1:g.61259167A>T GRCh37
NC_000002.10:g.61112671A>T NCBI36
NG_008665.1:g.19356A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.706A>T MANE Select ENSP00000295030.4:p.Ile236Leu
ENST00000295030.5:c.706A>T ENSP00000295030.4:p.Ile236Leu
NM_002618.3:c.706A>T NP_002609.1:p.Ile236Leu
XM_011532904.1:c.589A>T XP_011531206.1:p.Ile197Leu
NM_002618.4:c.706A>T MANE Select NP_002609.1:p.Ile236Leu
Search 100 bp 5'
Search 100 bp 3'