Canonical Allele Identifier: CA473860694
Gene: PEX16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.45931652T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910101T>C , CM000673.2:g.45910101T>C GRCh38
NC_000011.9:g.45931652T>C , CM000673.1:g.45931652T>C GRCh37
NC_000011.8:g.45888228T>C NCBI36
NG_008460.1:g.13023A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*153A>G MANE Select ENSP00000368024.5:n.*153A>G
ENST00000241041.7:c.1029A>G ENSP00000241041.3:p.Pro343=
NM_004813.2:c.*153A>G NP_004804.1:n.*153A>G
NM_057174.2:c.1029A>G NP_476515.1:p.Pro343=
NM_004813.3:c.*153A>G NP_004804.1:n.*153A>G
NM_004813.4:c.*153A>G MANE Select NP_004804.2:n.*153A>G
NM_057174.3:c.1029A>G NP_476515.2:p.Pro343=