Canonical Allele Identifier: CA452462573
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806307G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485170G>C , CM000668.2:g.143485170G>C GRCh38
NC_000006.11:g.143806307G>C , CM000668.1:g.143806307G>C GRCh37
NC_000006.10:g.143848000G>C NCBI36
NG_008459.1:g.39390G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.960G>C MANE Select ENSP00000356563.4:p.Leu320=
ENST00000367591.4:c.960G>C ENSP00000356563.4:p.Leu320=
ENST00000585848.1:n.99G>C
NM_003630.2:c.960G>C NP_003621.1:p.Leu320=
NM_003630.3:c.960G>C MANE Select NP_003621.1:p.Leu320=
Search 100 bp 5'
Search 100 bp 3'