Canonical Allele Identifier: CA5959754

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910896A>G , CM000673.2:g.45910896A>G	GRCh38
NC_000011.9:g.45932447A>G , CM000673.1:g.45932447A>G	GRCh37
NC_000011.8:g.45889023A>G	NCBI36
NG_008460.1:g.12228T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.952+2T>C MANE Select	NP_004804.2:n.952+2T>C
ENST00000378750.10:c.952+2T>C MANE Select	ENSP00000368024.5:n.952+2T>C
NM_004813.2:c.952+2T>C	NP_004804.1:n.952+2T>C
NM_004813.3:c.952+2T>C	NP_004804.1:n.952+2T>C
NM_057174.2:c.952+2T>C	NP_476515.1:n.952+2T>C
NM_057174.3:c.952+2T>C	NP_476515.2:n.952+2T>C
ENST00000241041.7:c.952+2T>C	ENSP00000241041.3:n.952+2T>C
ENST00000378750.9:c.952+2T>C	ENSP00000368024.5:n.952+2T>C
ENST00000523721.2:n.182+2T>C
ENST00000532681.5:c.667+2T>C	ENSP00000434654.1:n.667+2T>C
XM_011520474.1:c.829+2T>C	XP_011518776.1:n.829+2T>C