Canonical Allele Identifier: CA426411839
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259172C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032037C>T , CM000664.2:g.61032037C>T GRCh38
NC_000002.11:g.61259172C>T , CM000664.1:g.61259172C>T GRCh37
NC_000002.10:g.61112676C>T NCBI36
NG_008665.1:g.19361C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.711C>T MANE Select ENSP00000295030.4:p.Phe237=
ENST00000295030.5:c.711C>T ENSP00000295030.4:p.Phe237=
NM_002618.3:c.711C>T NP_002609.1:p.Phe237=
XM_011532904.1:c.594C>T XP_011531206.1:p.Phe198=
NM_002618.4:c.711C>T MANE Select NP_002609.1:p.Phe237=
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