Canonical Allele Identifier: CA346944578
Gene: PEX13 HGNC NCBI

Linked Data

gnomAD v4: 2-61032040-G-T
MyVariant Identifiers: chr2:g.61259175G>T (hg19) chr2:g.61032040G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.61032040G>T , CM000664.2:g.61032040G>T GRCh38
NC_000002.11:g.61259175G>T , CM000664.1:g.61259175G>T GRCh37
NC_000002.10:g.61112679G>T NCBI36
NG_008665.1:g.19364G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000295030.6:c.714G>T MANE Select ENSP00000295030.4:p.Leu238Phe
ENST00000295030.5:c.714G>T ENSP00000295030.4:p.Leu238Phe
NM_002618.3:c.714G>T NP_002609.1:p.Leu238Phe
XM_011532904.1:c.597G>T XP_011531206.1:p.Leu199Phe
NM_002618.4:c.714G>T MANE Select NP_002609.1:p.Leu238Phe
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