Canonical Allele Identifier: CA819499566

Gene: PEX7

Linked Data

• dbSNP Id: rs1451582688
• gnomAD v3: 6-136822547-C-G
• gnomAD v4: 6-136822547-C-G
• MyVariant Identifiers: chr6:g.137143685C>G (hg19) ; chr6:g.136822547C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822547C>G , CM000668.2:g.136822547C>G	GRCh38
NC_000006.11:g.137143685C>G , CM000668.1:g.137143685C>G	GRCh37
NC_000006.10:g.137185378C>G	NCBI36
NG_008462.1:g.4968C>G

Transcript Alleles

HGVS	Amino-acid change
XM_006715502.1:c.-119C>G	XP_006715565.1:n.-119C>G
XM_011535900.1:c.-119C>G	XP_011534202.1:n.-119C>G
XM_006715502.2:c.-119C>G	XP_006715565.1:n.-119C>G
XM_017010934.2:c.-119C>G	XP_016866423.1:n.-119C>G