Canonical Allele Identifier: CA5959857
Community Standard Title: NM_004813.4(PEX16):c.695-5G>A
Gene: PEX16 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45914208C>T , CM000673.2:g.45914208C>T GRCh38
NC_000011.9:g.45935759C>T , CM000673.1:g.45935759C>T GRCh37
NC_000011.8:g.45892335C>T NCBI36
NG_008460.1:g.8916G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004813.4:c.695-5G>A MANE Select NP_004804.2:n.695-5G>A
ENST00000378750.10:c.695-5G>A MANE Select ENSP00000368024.5:n.695-5G>A
NM_004813.2:c.695-5G>A NP_004804.1:n.695-5G>A
NM_004813.3:c.695-5G>A NP_004804.1:n.695-5G>A
NM_057174.2:c.695-5G>A NP_476515.1:n.695-5G>A
NM_057174.3:c.695-5G>A NP_476515.2:n.695-5G>A
ENST00000241041.7:c.695-5G>A ENSP00000241041.3:n.695-5G>A
ENST00000378750.9:c.695-5G>A ENSP00000368024.5:n.695-5G>A
ENST00000525192.5:c.410-5G>A ENSP00000431309.1:n.410-5G>A
ENST00000532554.5:n.466-5G>A
ENST00000532681.5:c.410-5G>A ENSP00000434654.1:n.410-5G>A
ENST00000533151.5:c.383-5G>A ENSP00000433045.1:n.383-5G>A
XM_011520474.1:c.572-5G>A XP_011518776.1:n.572-5G>A