Canonical Allele Identifier: CA5959694

Gene: PEX16

Linked Data

• dbSNP Id: rs772951825
• ExAC: 11:45931726 A / C
• gnomAD v2: 11-45931726-A-C
• gnomAD v4: 11-45910175-A-C
• MyVariant Identifiers: chr11:g.45931726A>C (hg19) ; chr11:g.45910175A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910175A>C , CM000673.2:g.45910175A>C	GRCh38
NC_000011.9:g.45931726A>C , CM000673.1:g.45931726A>C	GRCh37
NC_000011.8:g.45888302A>C	NCBI36
NG_008460.1:g.12949T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*79T>G MANE Select	ENSP00000368024.5:n.*79T>G
ENST00000241041.7:c.955T>G	ENSP00000241041.3:p.Ser319Ala
ENST00000378750.9:c.*79T>G	ENSP00000368024.5:n.*79T>G
ENST00000523721.2:n.320T>G
NM_004813.2:c.*79T>G	NP_004804.1:n.*79T>G
NM_057174.2:c.955T>G	NP_476515.1:p.Ser319Ala
XM_011520474.1:c.*79T>G	XP_011518776.1:n.*79T>G
NM_004813.3:c.*79T>G	NP_004804.1:n.*79T>G
NM_004813.4:c.*79T>G MANE Select	NP_004804.2:n.*79T>G
NM_057174.3:c.955T>G	NP_476515.2:p.Ser319Ala