Canonical Allele Identifier: CA1968698134
Gene: PEX16 HGNC NCBI

Linked Data

dbSNP Id: rs2086759298

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910076C>G , CM000673.2:g.45910076C>G GRCh38
NC_000011.9:g.45931627C>G , CM000673.1:g.45931627C>G GRCh37
NC_000011.8:g.45888203C>G NCBI36
NG_008460.1:g.13048G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*178G>C MANE Select ENSP00000368024.5:n.*178G>C
ENST00000241041.7:c.*13G>C ENSP00000241041.3:n.*13G>C
NM_004813.2:c.*178G>C NP_004804.1:n.*178G>C
NM_057174.2:c.*13G>C NP_476515.1:n.*13G>C
NM_004813.3:c.*178G>C NP_004804.1:n.*178G>C
NM_004813.4:c.*178G>C MANE Select NP_004804.2:n.*178G>C
NM_057174.3:c.*13G>C NP_476515.2:n.*13G>C