Canonical Allele Identifier: CA2613277446
Gene: PEX16 HGNC NCBI

Linked Data

gnomAD v4: 11-45909991-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45909991C>A , CM000673.2:g.45909991C>A GRCh38
NC_000011.9:g.45931542C>A , CM000673.1:g.45931542C>A GRCh37
NC_000011.8:g.45888118C>A NCBI36
NG_008460.1:g.13133G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*263G>T MANE Select ENSP00000368024.5:n.*263G>T
ENST00000241041.7:c.*98G>T ENSP00000241041.3:n.*98G>T
NM_004813.2:c.*263G>T NP_004804.1:n.*263G>T
NM_057174.2:c.*98G>T NP_476515.1:n.*98G>T
NM_004813.3:c.*263G>T NP_004804.1:n.*263G>T
NM_004813.4:c.*263G>T MANE Select NP_004804.2:n.*263G>T
NM_057174.3:c.*98G>T NP_476515.2:n.*98G>T
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