Canonical Allele Identifier: CA148640689

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1495627
• ClinVar RCV Id: RCV001991475
• dbSNP Id: rs61753239
• gnomAD v4: 6-136822787-G-A
• MyVariant Identifiers: chr6:g.137143925G>A (hg19) ; chr6:g.136822787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822787G>A , CM000668.2:g.136822787G>A	GRCh38
NC_000006.11:g.137143925G>A , CM000668.1:g.137143925G>A	GRCh37
NC_000006.10:g.137185618G>A	NCBI36
NG_008462.1:g.5208G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.122G>A MANE Select	ENSP00000315680.3:p.Gly41Asp
ENST00000541292.6:c.122G>A	ENSP00000441004.1:p.Gly41Asp
ENST00000678593.1:c.122G>A	ENSP00000503841.1:p.Gly41Asp
ENST00000318471.4:c.122G>A	ENSP00000315680.3:p.Gly41Asp
ENST00000367756.8:c.122G>A	ENSP00000356730.4:p.Gly41Asp
ENST00000541292.5:c.122G>A	ENSP00000441004.1:p.Gly41Asp
NM_000288.3:c.122G>A	NP_000279.1:p.Gly41Asp
XM_006715502.1:c.122G>A	XP_006715565.1:p.Gly41Asp
XM_011535900.1:c.122G>A	XP_011534202.1:p.Gly41Asp
XM_006715502.2:c.122G>A	XP_006715565.1:p.Gly41Asp
XM_017010934.2:c.122G>A	XP_016866423.1:p.Gly41Asp
NM_000288.4:c.122G>A MANE Select	NP_000279.1:p.Gly41Asp