Canonical Allele Identifier: CA473861521
Community Standard Title: NM_004813.4(PEX16):c.87G>A (p.Val29=)
Gene: PEX16 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45917725C>T , CM000673.2:g.45917725C>T GRCh38
NC_000011.9:g.45939276C>T , CM000673.1:g.45939276C>T GRCh37
NC_000011.8:g.45895852C>T NCBI36
NG_008460.1:g.5399G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004813.4:c.87G>A MANE Select NP_004804.2:p.Val29=
ENST00000378750.10:c.87G>A MANE Select ENSP00000368024.5:p.Val29=
NM_004813.2:c.87G>A NP_004804.1:p.Val29=
NM_004813.3:c.87G>A NP_004804.1:p.Val29=
NM_057174.2:c.87G>A NP_476515.1:p.Val29=
NM_057174.3:c.87G>A NP_476515.2:p.Val29=
ENST00000241041.7:c.87G>A ENSP00000241041.3:p.Val29=
ENST00000378750.9:c.87G>A ENSP00000368024.5:p.Val29=
ENST00000525192.5:c.-174+49G>A ENSP00000431309.1:n.-174+49G>A
ENST00000525229.5:c.87G>A ENSP00000431132.1:p.Val29=
ENST00000528674.5:c.38+49G>A ENSP00000434060.1:n.38+49G>A
ENST00000529030.1:c.87G>A ENSP00000432486.1:p.Val29=
ENST00000532554.5:n.94+49G>A
ENST00000532681.5:c.-173-232G>A ENSP00000434654.1:n.-173-232G>A
ENST00000533151.5:c.87G>A ENSP00000433045.1:p.Val29=