Canonical Allele Identifier: CA380230404

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45917698A>C , CM000673.2:g.45917698A>C	GRCh38
NC_000011.9:g.45939249A>C , CM000673.1:g.45939249A>C	GRCh37
NC_000011.8:g.45895825A>C	NCBI36
NG_008460.1:g.5426T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.112+2T>G MANE Select	NP_004804.2:n.112+2T>G
ENST00000378750.10:c.112+2T>G MANE Select	ENSP00000368024.5:n.112+2T>G
NM_004813.2:c.112+2T>G	NP_004804.1:n.112+2T>G
NM_004813.3:c.112+2T>G	NP_004804.1:n.112+2T>G
NM_057174.2:c.112+2T>G	NP_476515.1:n.112+2T>G
NM_057174.3:c.112+2T>G	NP_476515.2:n.112+2T>G
ENST00000241041.7:c.112+2T>G	ENSP00000241041.3:n.112+2T>G
ENST00000378750.9:c.112+2T>G	ENSP00000368024.5:n.112+2T>G
ENST00000525192.5:c.-174+76T>G	ENSP00000431309.1:n.-174+76T>G
ENST00000525229.5:c.114T>G	ENSP00000431132.1:p.Gly38=
ENST00000528674.5:c.38+76T>G	ENSP00000434060.1:n.38+76T>G
ENST00000529030.1:c.112+2T>G	ENSP00000432486.1:n.112+2T>G
ENST00000532554.5:n.94+76T>G
ENST00000532681.5:c.-173-205T>G	ENSP00000434654.1:n.-173-205T>G
ENST00000533151.5:c.112+2T>G	ENSP00000433045.1:n.112+2T>G