Canonical Allele Identifier: CA2578751574

Gene: PEX7

Linked Data

• gnomAD v4: 6-136822599-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822599C>A , CM000668.2:g.136822599C>A	GRCh38
NC_000006.11:g.137143737C>A , CM000668.1:g.137143737C>A	GRCh37
NC_000006.10:g.137185430C>A	NCBI36
NG_008462.1:g.5020C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-67C>A MANE Select	ENSP00000315680.3:n.-67C>A
ENST00000541292.6:c.-67C>A	ENSP00000441004.1:n.-67C>A
ENST00000318471.4:c.-67C>A	ENSP00000315680.3:n.-67C>A
ENST00000367756.8:c.-67C>A	ENSP00000356730.4:n.-67C>A
ENST00000541292.5:c.-67C>A	ENSP00000441004.1:n.-67C>A
NM_000288.3:c.-67C>A	NP_000279.1:n.-67C>A
XM_006715502.1:c.-67C>A	XP_006715565.1:n.-67C>A
XM_011535900.1:c.-67C>A	XP_011534202.1:n.-67C>A
XM_006715502.2:c.-67C>A	XP_006715565.1:n.-67C>A
XM_017010934.2:c.-67C>A	XP_016866423.1:n.-67C>A
NM_000288.4:c.-67C>A MANE Select	NP_000279.1:n.-67C>A