Canonical Allele Identifier: CA473860751
Gene: PEX16 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.45931724G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45910173G>C , CM000673.2:g.45910173G>C GRCh38
NC_000011.9:g.45931724G>C , CM000673.1:g.45931724G>C GRCh37
NC_000011.8:g.45888300G>C NCBI36
NG_008460.1:g.12951C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378750.10:c.*81C>G MANE Select ENSP00000368024.5:n.*81C>G
ENST00000241041.7:c.957C>G ENSP00000241041.3:p.Ser319=
ENST00000523721.2:n.322C>G
NM_004813.2:c.*81C>G NP_004804.1:n.*81C>G
NM_057174.2:c.957C>G NP_476515.1:p.Ser319=
NM_004813.3:c.*81C>G NP_004804.1:n.*81C>G
NM_004813.4:c.*81C>G MANE Select NP_004804.2:n.*81C>G
NM_057174.3:c.957C>G NP_476515.2:p.Ser319=