Canonical Allele Identifier: CA676924533
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs1293426578
MyVariant Identifiers: chr11:g.45931574T>C (hg19) chr11:g.45910023T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910023T>C , CM000673.2:g.45910023T>C GRCh38
NC_000011.9:g.45931574T>C , CM000673.1:g.45931574T>C GRCh37
NC_000011.8:g.45888150T>C NCBI36
NG_008460.1:g.13101A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*231A>G MANE Select ENSP00000368024.5:n.*231A>G
ENST00000241041.7:c.*66A>G ENSP00000241041.3:n.*66A>G
NM_004813.2:c.*231A>G NP_004804.1:n.*231A>G
NM_057174.2:c.*66A>G NP_476515.1:n.*66A>G
NM_004813.3:c.*231A>G NP_004804.1:n.*231A>G
NM_004813.4:c.*231A>G MANE Select NP_004804.2:n.*231A>G
NM_057174.3:c.*66A>G NP_476515.2:n.*66A>G
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