Canonical Allele Identifier: CA380222807

Gene: PEX16

Linked Data

• MyVariant Identifiers: chr11:g.45931679C>A (hg19) ; chr11:g.45910128C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910128C>A , CM000673.2:g.45910128C>A	GRCh38
NC_000011.9:g.45931679C>A , CM000673.1:g.45931679C>A	GRCh37
NC_000011.8:g.45888255C>A	NCBI36
NG_008460.1:g.12996G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*126G>T MANE Select	ENSP00000368024.5:n.*126G>T
ENST00000241041.7:c.1002G>T	ENSP00000241041.3:p.Gln334His
NM_004813.2:c.*126G>T	NP_004804.1:n.*126G>T
NM_057174.2:c.1002G>T	NP_476515.1:p.Gln334His
NM_004813.3:c.*126G>T	NP_004804.1:n.*126G>T
NM_004813.4:c.*126G>T MANE Select	NP_004804.2:n.*126G>T
NM_057174.3:c.1002G>T	NP_476515.2:p.Gln334His