Canonical Allele Identifier: CA819499556

Gene: PEX7

Linked Data

• dbSNP Id: rs1170955852
• gnomAD v3: 6-136822524-C-A
• gnomAD v4: 6-136822524-C-A
• MyVariant Identifiers: chr6:g.137143662C>A (hg19) ; chr6:g.136822524C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822524C>A , CM000668.2:g.136822524C>A	GRCh38
NC_000006.11:g.137143662C>A , CM000668.1:g.137143662C>A	GRCh37
NC_000006.10:g.137185355C>A	NCBI36
NG_008462.1:g.4945C>A

Transcript Alleles

HGVS	Amino-acid change
XM_006715502.1:c.-142C>A	XP_006715565.1:n.-142C>A
XM_011535900.1:c.-142C>A	XP_011534202.1:n.-142C>A
XM_006715502.2:c.-142C>A	XP_006715565.1:n.-142C>A
XM_017010934.2:c.-142C>A	XP_016866423.1:n.-142C>A