Canonical Allele Identifier: CA380222746
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1365016025
gnomAD v2: 11-45931663-C-G
gnomAD v4: 11-45910112-C-G
MyVariant Identifiers: chr11:g.45931663C>G (hg19) chr11:g.45910112C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910112C>G , CM000673.2:g.45910112C>G GRCh38
NC_000011.9:g.45931663C>G , CM000673.1:g.45931663C>G GRCh37
NC_000011.8:g.45888239C>G NCBI36
NG_008460.1:g.13012G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*142G>C MANE Select ENSP00000368024.5:n.*142G>C
ENST00000241041.7:c.1018G>C ENSP00000241041.3:p.Ala340Pro
NM_004813.2:c.*142G>C NP_004804.1:n.*142G>C
NM_057174.2:c.1018G>C NP_476515.1:p.Ala340Pro
NM_004813.3:c.*142G>C NP_004804.1:n.*142G>C
NM_004813.4:c.*142G>C MANE Select NP_004804.2:n.*142G>C
NM_057174.3:c.1018G>C NP_476515.2:p.Ala340Pro
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