Canonical Allele Identifier: CA380222806
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1394819315
gnomAD v2: 11-45931678-G-A
gnomAD v3: 11-45910127-G-A
gnomAD v4: 11-45910127-G-A
MyVariant Identifiers: chr11:g.45931678G>A (hg19) chr11:g.45910127G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910127G>A , CM000673.2:g.45910127G>A GRCh38
NC_000011.9:g.45931678G>A , CM000673.1:g.45931678G>A GRCh37
NC_000011.8:g.45888254G>A NCBI36
NG_008460.1:g.12997C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*127C>T MANE Select ENSP00000368024.5:n.*127C>T
ENST00000241041.7:c.1003C>T ENSP00000241041.3:p.Pro335Ser
NM_004813.2:c.*127C>T NP_004804.1:n.*127C>T
NM_057174.2:c.1003C>T NP_476515.1:p.Pro335Ser
NM_004813.3:c.*127C>T NP_004804.1:n.*127C>T
NM_004813.4:c.*127C>T MANE Select NP_004804.2:n.*127C>T
NM_057174.3:c.1003C>T NP_476515.2:p.Pro335Ser
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