Canonical Allele Identifier: CA346944508
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259163G>T (hg19) chr2:g.61032028G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032028G>T , CM000664.2:g.61032028G>T GRCh38
NC_000002.11:g.61259163G>T , CM000664.1:g.61259163G>T GRCh37
NC_000002.10:g.61112667G>T NCBI36
NG_008665.1:g.19352G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.702G>T MANE Select ENSP00000295030.4:p.Trp234Cys
ENST00000295030.5:c.702G>T ENSP00000295030.4:p.Trp234Cys
NM_002618.3:c.702G>T NP_002609.1:p.Trp234Cys
XM_011532904.1:c.585G>T XP_011531206.1:p.Trp195Cys
NM_002618.4:c.702G>T MANE Select NP_002609.1:p.Trp234Cys
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