Canonical Allele Identifier: CA2613277340
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45909976-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909976T>A , CM000673.2:g.45909976T>A GRCh38
NC_000011.9:g.45931527T>A , CM000673.1:g.45931527T>A GRCh37
NC_000011.8:g.45888103T>A NCBI36
NG_008460.1:g.13148A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*278A>T MANE Select ENSP00000368024.5:n.*278A>T
ENST00000241041.7:c.*113A>T ENSP00000241041.3:n.*113A>T
NM_004813.2:c.*278A>T NP_004804.1:n.*278A>T
NM_057174.2:c.*113A>T NP_476515.1:n.*113A>T
NM_004813.3:c.*278A>T NP_004804.1:n.*278A>T
NM_004813.4:c.*278A>T MANE Select NP_004804.2:n.*278A>T
NM_057174.3:c.*113A>T NP_476515.2:n.*113A>T
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