Canonical Allele Identifier: CA380227325

Gene: PEX16

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45914633G>C , CM000673.2:g.45914633G>C	GRCh38
NC_000011.9:g.45936184G>C , CM000673.1:g.45936184G>C	GRCh37
NC_000011.8:g.45892760G>C	NCBI36
NG_008460.1:g.8491C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004813.4:c.512C>G MANE Select	NP_004804.2:p.Ser171Ter
ENST00000378750.10:c.512C>G MANE Select	ENSP00000368024.5:p.Ser171Ter
NM_004813.2:c.512C>G	NP_004804.1:p.Ser171Ter
NM_004813.3:c.512C>G	NP_004804.1:p.Ser171Ter
NM_057174.2:c.512C>G	NP_476515.1:p.Ser171Ter
NM_057174.3:c.512C>G	NP_476515.2:p.Ser171Ter
ENST00000241041.7:c.512C>G	ENSP00000241041.3:p.Ser171Ter
ENST00000378750.9:c.512C>G	ENSP00000368024.5:p.Ser171Ter
ENST00000525192.5:c.227C>G	ENSP00000431309.1:p.Ser76Ter
ENST00000527371.1:n.128C>G
ENST00000532554.5:n.283C>G
ENST00000532681.5:c.227C>G	ENSP00000434654.1:p.Ser76Ter
ENST00000533151.5:c.200C>G	ENSP00000433045.1:p.Ser67Ter
XM_011520474.1:c.389C>G	XP_011518776.1:p.Ser130Ter