Canonical Allele Identifier: CA2680487877

Gene: PEX7

Linked Data

• gnomAD v4: 6-136822619-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822619A>G , CM000668.2:g.136822619A>G	GRCh38
NC_000006.11:g.137143757A>G , CM000668.1:g.137143757A>G	GRCh37
NC_000006.10:g.137185450A>G	NCBI36
NG_008462.1:g.5040A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-47A>G MANE Select	ENSP00000315680.3:n.-47A>G
ENST00000541292.6:c.-47A>G	ENSP00000441004.1:n.-47A>G
ENST00000318471.4:c.-47A>G	ENSP00000315680.3:n.-47A>G
ENST00000367756.8:c.-47A>G	ENSP00000356730.4:n.-47A>G
ENST00000541292.5:c.-47A>G	ENSP00000441004.1:n.-47A>G
NM_000288.3:c.-47A>G	NP_000279.1:n.-47A>G
XM_006715502.1:c.-47A>G	XP_006715565.1:n.-47A>G
XM_011535900.1:c.-47A>G	XP_011534202.1:n.-47A>G
XM_006715502.2:c.-47A>G	XP_006715565.1:n.-47A>G
XM_017010934.2:c.-47A>G	XP_016866423.1:n.-47A>G
NM_000288.4:c.-47A>G MANE Select	NP_000279.1:n.-47A>G