Canonical Allele Identifier: CA380222820

Gene: PEX16

Linked Data

• dbSNP Id: rs1383340142
• gnomAD v4: 11-45910130-G-A
• MyVariant Identifiers: chr11:g.45931681G>A (hg19) ; chr11:g.45910130G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910130G>A , CM000673.2:g.45910130G>A	GRCh38
NC_000011.9:g.45931681G>A , CM000673.1:g.45931681G>A	GRCh37
NC_000011.8:g.45888257G>A	NCBI36
NG_008460.1:g.12994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.*124C>T MANE Select	ENSP00000368024.5:n.*124C>T
ENST00000241041.7:c.1000C>T	ENSP00000241041.3:p.Gln334Ter
NM_004813.2:c.*124C>T	NP_004804.1:n.*124C>T
NM_057174.2:c.1000C>T	NP_476515.1:p.Gln334Ter
NM_004813.3:c.*124C>T	NP_004804.1:n.*124C>T
NM_004813.4:c.*124C>T MANE Select	NP_004804.2:n.*124C>T
NM_057174.3:c.1000C>T	NP_476515.2:p.Gln334Ter