Canonical Allele Identifier: CA599028305
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1213258341
gnomAD v2: 11-45931609-G-A
gnomAD v3: 11-45910058-G-A
gnomAD v4: 11-45910058-G-A
MyVariant Identifiers: chr11:g.45931609G>A (hg19) chr11:g.45910058G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910058G>A , CM000673.2:g.45910058G>A GRCh38
NC_000011.9:g.45931609G>A , CM000673.1:g.45931609G>A GRCh37
NC_000011.8:g.45888185G>A NCBI36
NG_008460.1:g.13066C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*196C>T MANE Select ENSP00000368024.5:n.*196C>T
ENST00000241041.7:c.*31C>T ENSP00000241041.3:n.*31C>T
NM_004813.2:c.*196C>T NP_004804.1:n.*196C>T
NM_057174.2:c.*31C>T NP_476515.1:n.*31C>T
NM_004813.3:c.*196C>T NP_004804.1:n.*196C>T
NM_004813.4:c.*196C>T MANE Select NP_004804.2:n.*196C>T
NM_057174.3:c.*31C>T NP_476515.2:n.*31C>T
Search 100 bp 5'
Search 100 bp 3'