Canonical Allele Identifier: CA5959675
Gene: PEX16 HGNC NCBI

Linked Data

ClinVar Variation Id: 304783
ClinVar RCV Id: RCV000359079 RCV000513889
dbSNP Id: rs79435202
ExAC: 11:45931647 T / G
gnomAD v2: 11-45931647-T-G
gnomAD v3: 11-45910096-T-G
gnomAD v4: 11-45910096-T-G
MyVariant Identifiers: chr11:g.45931647T>G (hg19) chr11:g.45910096T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910096T>G , CM000673.2:g.45910096T>G GRCh38
NC_000011.9:g.45931647T>G , CM000673.1:g.45931647T>G GRCh37
NC_000011.8:g.45888223T>G NCBI36
NG_008460.1:g.13028A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378750.10:c.*158A>C MANE Select ENSP00000368024.5:n.*158A>C
ENST00000241041.7:c.1034A>C ENSP00000241041.3:p.His345Pro
NM_004813.2:c.*158A>C NP_004804.1:n.*158A>C
NM_057174.2:c.1034A>C NP_476515.1:p.His345Pro
NM_004813.3:c.*158A>C NP_004804.1:n.*158A>C
NM_004813.4:c.*158A>C MANE Select NP_004804.2:n.*158A>C
NM_057174.3:c.1034A>C NP_476515.2:p.His345Pro
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