Canonical Allele Identifier: CA365855086

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1944944
• ClinVar RCV Id: RCV002640029
• dbSNP Id: rs766966840
• gnomAD v4: 6-136822685-G-A
• MyVariant Identifiers: chr6:g.137143823G>A (hg19) ; chr6:g.136822685G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822685G>A , CM000668.2:g.136822685G>A	GRCh38
NC_000006.11:g.137143823G>A , CM000668.1:g.137143823G>A	GRCh37
NC_000006.10:g.137185516G>A	NCBI36
NG_008462.1:g.5106G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.20G>A MANE Select	ENSP00000315680.3:p.Gly7Glu
ENST00000541292.6:c.20G>A	ENSP00000441004.1:p.Gly7Glu
ENST00000678593.1:c.20G>A	ENSP00000503841.1:p.Gly7Glu
ENST00000318471.4:c.20G>A	ENSP00000315680.3:p.Gly7Glu
ENST00000367756.8:c.20G>A	ENSP00000356730.4:p.Gly7Glu
ENST00000541292.5:c.20G>A	ENSP00000441004.1:p.Gly7Glu
NM_000288.3:c.20G>A	NP_000279.1:p.Gly7Glu
XM_006715502.1:c.20G>A	XP_006715565.1:p.Gly7Glu
XM_011535900.1:c.20G>A	XP_011534202.1:p.Gly7Glu
XM_006715502.2:c.20G>A	XP_006715565.1:p.Gly7Glu
XM_017010934.2:c.20G>A	XP_016866423.1:p.Gly7Glu
NM_000288.4:c.20G>A MANE Select	NP_000279.1:p.Gly7Glu