Canonical Allele Identifier: CA346944554
Gene: PEX13 HGNC NCBI

Linked Data

dbSNP Id: rs1363699944
gnomAD v2: 2-61259172-C-G
gnomAD v4: 2-61032037-C-G
MyVariant Identifiers: chr2:g.61259172C>G (hg19) chr2:g.61032037C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.711C>G MANE Select ENSP00000295030.4:p.Phe237Leu
ENST00000295030.5:c.711C>G ENSP00000295030.4:p.Phe237Leu
NM_002618.3:c.711C>G NP_002609.1:p.Phe237Leu
XM_011532904.1:c.594C>G XP_011531206.1:p.Phe198Leu
NM_002618.4:c.711C>G MANE Select NP_002609.1:p.Phe237Leu
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