Canonical Allele Identifier: CA5959688
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 304784
ClinVar RCV Id: RCV000264356
dbSNP Id: rs201513691
ExAC: 11:45931698 G / A
gnomAD v2: 11-45931698-G-A
gnomAD v3: 11-45910147-G-A
gnomAD v4: 11-45910147-G-A
MyVariant Identifiers: chr11:g.45931698G>A (hg19) chr11:g.45910147G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910147G>A , CM000673.2:g.45910147G>A GRCh38
NC_000011.9:g.45931698G>A , CM000673.1:g.45931698G>A GRCh37
NC_000011.8:g.45888274G>A NCBI36
NG_008460.1:g.12977C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*107C>T MANE Select ENSP00000368024.5:n.*107C>T
ENST00000241041.7:c.983C>T ENSP00000241041.3:p.Pro328Leu
NM_004813.2:c.*107C>T NP_004804.1:n.*107C>T
NM_057174.2:c.983C>T NP_476515.1:p.Pro328Leu
NM_004813.3:c.*107C>T NP_004804.1:n.*107C>T
NM_004813.4:c.*107C>T MANE Select NP_004804.2:n.*107C>T
NM_057174.3:c.983C>T NP_476515.2:p.Pro328Leu
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