Canonical Allele Identifier: CA346944009
Gene: PEX13 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.61259064A>T (hg19) chr2:g.61031929A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61031929A>T , CM000664.2:g.61031929A>T GRCh38
NC_000002.11:g.61259064A>T , CM000664.1:g.61259064A>T GRCh37
NC_000002.10:g.61112568A>T NCBI36
NG_008665.1:g.19253A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.603A>T MANE Select ENSP00000295030.4:p.Leu201Phe
ENST00000295030.5:c.603A>T ENSP00000295030.4:p.Leu201Phe
NM_002618.3:c.603A>T NP_002609.1:p.Leu201Phe
XM_011532904.1:c.486A>T XP_011531206.1:p.Leu162Phe
NM_002618.4:c.603A>T MANE Select NP_002609.1:p.Leu201Phe
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