Canonical Allele Identifier: CA5959708

Gene: PEX16

Linked Data

• dbSNP Id: rs781695293
• ExAC: 11:45931776 C / G
• gnomAD v2: 11-45931776-C-G
• gnomAD v3: 11-45910225-C-G
• gnomAD v4: 11-45910225-C-G
• MyVariant Identifiers: chr11:g.45931776C>G (hg19) ; chr11:g.45910225C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910225C>G , CM000673.2:g.45910225C>G	GRCh38
NC_000011.9:g.45931776C>G , CM000673.1:g.45931776C>G	GRCh37
NC_000011.8:g.45888352C>G	NCBI36
NG_008460.1:g.12899G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*29G>C MANE Select	ENSP00000368024.5:n.*29G>C
ENST00000241041.7:c.953-48G>C	ENSP00000241041.3:n.953-48G>C
ENST00000378750.9:c.*29G>C	ENSP00000368024.5:n.*29G>C
ENST00000523721.2:n.270G>C
ENST00000532681.5:c.*29G>C	ENSP00000434654.1:n.*29G>C
NM_004813.2:c.*29G>C	NP_004804.1:n.*29G>C
NM_057174.2:c.953-48G>C	NP_476515.1:n.953-48G>C
XM_011520474.1:c.*29G>C	XP_011518776.1:n.*29G>C
NM_004813.3:c.*29G>C	NP_004804.1:n.*29G>C
NM_004813.4:c.*29G>C MANE Select	NP_004804.2:n.*29G>C
NM_057174.3:c.953-48G>C	NP_476515.2:n.953-48G>C