Canonical Allele Identifier: CA2680487874

Gene: PEX7

Linked Data

• dbSNP Id: rs1225187761
• gnomAD v4: 6-136822614-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822614C>G , CM000668.2:g.136822614C>G	GRCh38
NC_000006.11:g.137143752C>G , CM000668.1:g.137143752C>G	GRCh37
NC_000006.10:g.137185445C>G	NCBI36
NG_008462.1:g.5035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-52C>G MANE Select	ENSP00000315680.3:n.-52C>G
ENST00000541292.6:c.-52C>G	ENSP00000441004.1:n.-52C>G
ENST00000318471.4:c.-52C>G	ENSP00000315680.3:n.-52C>G
ENST00000367756.8:c.-52C>G	ENSP00000356730.4:n.-52C>G
ENST00000541292.5:c.-52C>G	ENSP00000441004.1:n.-52C>G
NM_000288.3:c.-52C>G	NP_000279.1:n.-52C>G
XM_006715502.1:c.-52C>G	XP_006715565.1:n.-52C>G
XM_011535900.1:c.-52C>G	XP_011534202.1:n.-52C>G
XM_006715502.2:c.-52C>G	XP_006715565.1:n.-52C>G
XM_017010934.2:c.-52C>G	XP_016866423.1:n.-52C>G
NM_000288.4:c.-52C>G MANE Select	NP_000279.1:n.-52C>G