Canonical Allele Identifier: CA452462572
Gene: PEX3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.143806307G>T (hg19)

Genomic Alleles

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

Transcript Alleles

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