Canonical Allele Identifier: CA380224726

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910964T>G , CM000673.2:g.45910964T>G	GRCh38
NC_000011.9:g.45932515T>G , CM000673.1:g.45932515T>G	GRCh37
NC_000011.8:g.45889091T>G	NCBI36
NG_008460.1:g.12160A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.888-2A>C MANE Select	NP_004804.2:n.888-2A>C
ENST00000378750.10:c.888-2A>C MANE Select	ENSP00000368024.5:n.888-2A>C
NM_004813.2:c.888-2A>C	NP_004804.1:n.888-2A>C
NM_004813.3:c.888-2A>C	NP_004804.1:n.888-2A>C
NM_057174.2:c.888-2A>C	NP_476515.1:n.888-2A>C
NM_057174.3:c.888-2A>C	NP_476515.2:n.888-2A>C
ENST00000241041.7:c.888-2A>C	ENSP00000241041.3:n.888-2A>C
ENST00000378750.9:c.888-2A>C	ENSP00000368024.5:n.888-2A>C
ENST00000523721.2:n.118-2A>C
ENST00000532681.5:c.603-2A>C	ENSP00000434654.1:n.603-2A>C
XM_011520474.1:c.765-2A>C	XP_011518776.1:n.765-2A>C