Canonical Allele Identifier: CA221583862
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1001184234
gnomAD v2: 11-45931564-C-T
gnomAD v3: 11-45910013-C-T
gnomAD v4: 11-45910013-C-T
MyVariant Identifiers: chr11:g.45931564C>T (hg19) chr11:g.45910013C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910013C>T , CM000673.2:g.45910013C>T GRCh38
NC_000011.9:g.45931564C>T , CM000673.1:g.45931564C>T GRCh37
NC_000011.8:g.45888140C>T NCBI36
NG_008460.1:g.13111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*241G>A MANE Select ENSP00000368024.5:n.*241G>A
ENST00000241041.7:c.*76G>A ENSP00000241041.3:n.*76G>A
NM_004813.2:c.*241G>A NP_004804.1:n.*241G>A
NM_057174.2:c.*76G>A NP_476515.1:n.*76G>A
NM_004813.3:c.*241G>A NP_004804.1:n.*241G>A
NM_004813.4:c.*241G>A MANE Select NP_004804.2:n.*241G>A
NM_057174.3:c.*76G>A NP_476515.2:n.*76G>A
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