Canonical Allele Identifier: CA452374737

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2018172
• ClinVar RCV Id: RCV002861865
• gnomAD v4: 6-136822788-C-A
• MyVariant Identifiers: chr6:g.137143926C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822788C>A , CM000668.2:g.136822788C>A	GRCh38
NC_000006.11:g.137143926C>A , CM000668.1:g.137143926C>A	GRCh37
NC_000006.10:g.137185619C>A	NCBI36
NG_008462.1:g.5209C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.123C>A MANE Select	ENSP00000315680.3:p.Gly41=
ENST00000541292.6:c.123C>A	ENSP00000441004.1:p.Gly41=
ENST00000678593.1:c.123C>A	ENSP00000503841.1:p.Gly41=
ENST00000318471.4:c.123C>A	ENSP00000315680.3:p.Gly41=
ENST00000367756.8:c.123C>A	ENSP00000356730.4:p.Gly41=
ENST00000541292.5:c.123C>A	ENSP00000441004.1:p.Gly41=
NM_000288.3:c.123C>A	NP_000279.1:p.Gly41=
XM_006715502.1:c.123C>A	XP_006715565.1:p.Gly41=
XM_011535900.1:c.123C>A	XP_011534202.1:p.Gly41=
XM_006715502.2:c.123C>A	XP_006715565.1:p.Gly41=
XM_017010934.2:c.123C>A	XP_016866423.1:p.Gly41=
NM_000288.4:c.123C>A MANE Select	NP_000279.1:p.Gly41=