Canonical Allele Identifier: CA380222785
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs149943332
gnomAD v2: 11-45931671-G-T
gnomAD v3: 11-45910120-G-T
gnomAD v4: 11-45910120-G-T
MyVariant Identifiers: chr11:g.45931671G>T (hg19) chr11:g.45910120G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910120G>T , CM000673.2:g.45910120G>T GRCh38
NC_000011.9:g.45931671G>T , CM000673.1:g.45931671G>T GRCh37
NC_000011.8:g.45888247G>T NCBI36
NG_008460.1:g.13004C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*134C>A MANE Select ENSP00000368024.5:n.*134C>A
ENST00000241041.7:c.1010C>A ENSP00000241041.3:p.Ser337Ter
NM_004813.2:c.*134C>A NP_004804.1:n.*134C>A
NM_057174.2:c.1010C>A NP_476515.1:p.Ser337Ter
NM_004813.3:c.*134C>A NP_004804.1:n.*134C>A
NM_004813.4:c.*134C>A MANE Select NP_004804.2:n.*134C>A
NM_057174.3:c.1010C>A NP_476515.2:p.Ser337Ter
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