Canonical Allele Identifier: CA2613277448
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45909992-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909992T>G , CM000673.2:g.45909992T>G GRCh38
NC_000011.9:g.45931543T>G , CM000673.1:g.45931543T>G GRCh37
NC_000011.8:g.45888119T>G NCBI36
NG_008460.1:g.13132A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*262A>C MANE Select ENSP00000368024.5:n.*262A>C
ENST00000241041.7:c.*97A>C ENSP00000241041.3:n.*97A>C
NM_004813.2:c.*262A>C NP_004804.1:n.*262A>C
NM_057174.2:c.*97A>C NP_476515.1:n.*97A>C
NM_004813.3:c.*262A>C NP_004804.1:n.*262A>C
NM_004813.4:c.*262A>C MANE Select NP_004804.2:n.*262A>C
NM_057174.3:c.*97A>C NP_476515.2:n.*97A>C
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