Canonical Allele Identifier: CA365887390
Gene: PEX3 HGNC NCBI

Linked Data

gnomAD v4: 6-143485190-C-T
MyVariant Identifiers: chr6:g.143806327C>T (hg19) chr6:g.143485190C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.143485190C>T , CM000668.2:g.143485190C>T GRCh38
NC_000006.11:g.143806327C>T , CM000668.1:g.143806327C>T GRCh37
NC_000006.10:g.143848020C>T NCBI36
NG_008459.1:g.39410C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000367591.5:c.980C>T MANE Select ENSP00000356563.4:p.Pro327Leu
ENST00000367591.4:c.980C>T ENSP00000356563.4:p.Pro327Leu
ENST00000585848.1:n.119C>T
NM_003630.2:c.980C>T NP_003621.1:p.Pro327Leu
NM_003630.3:c.980C>T MANE Select NP_003621.1:p.Pro327Leu
Search 100 bp 5'
Search 100 bp 3'