Canonical Allele Identifier: CA221584328

Gene: PEX16

Linked Data

• dbSNP Id: rs954917222
• gnomAD v2: 11-45931941-T-C
• gnomAD v3: 11-45910390-T-C
• gnomAD v4: 11-45910390-T-C
• MyVariant Identifiers: chr11:g.45931941T>C (hg19) ; chr11:g.45910390T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.45910390T>C , CM000673.2:g.45910390T>C	GRCh38
NC_000011.9:g.45931941T>C , CM000673.1:g.45931941T>C	GRCh37
NC_000011.8:g.45888517T>C	NCBI36
NG_008460.1:g.12734A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378750.10:c.953-78A>G MANE Select	ENSP00000368024.5:n.953-78A>G
ENST00000241041.7:c.953-213A>G	ENSP00000241041.3:n.953-213A>G
ENST00000378750.9:c.953-78A>G	ENSP00000368024.5:n.953-78A>G
ENST00000523721.2:n.183-78A>G
ENST00000532681.5:c.668-78A>G	ENSP00000434654.1:n.668-78A>G
NM_004813.2:c.953-78A>G	NP_004804.1:n.953-78A>G
NM_057174.2:c.953-213A>G	NP_476515.1:n.953-213A>G
XM_011520474.1:c.830-78A>G	XP_011518776.1:n.830-78A>G
NM_004813.3:c.953-78A>G	NP_004804.1:n.953-78A>G
NM_004813.4:c.953-78A>G MANE Select	NP_004804.2:n.953-78A>G
NM_057174.3:c.953-213A>G	NP_476515.2:n.953-213A>G