Canonical Allele Identifier: CA1094876566

Gene: PEX7

Linked Data

• dbSNP Id: rs1775693241
• gnomAD v3: 6-136898557-G-A
• gnomAD v4: 6-136898557-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898557G>A , CM000668.2:g.136898557G>A	GRCh38
NC_000006.11:g.137219695G>A , CM000668.1:g.137219695G>A	GRCh37
NC_000006.10:g.137261388G>A	NCBI36
NG_008462.1:g.80978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+316G>A MANE Select	ENSP00000315680.3:n.903+316G>A
ENST00000541292.6:c.*168+316G>A	ENSP00000441004.1:n.*168+316G>A
ENST00000678002.1:c.591+316G>A
ENST00000678557.1:c.789+316G>A	ENSP00000502962.1:n.789+316G>A
ENST00000679286.1:c.783+316G>A	ENSP00000503168.1:n.783+316G>A
ENST00000318471.4:c.903+316G>A	ENSP00000315680.3:n.903+316G>A
NM_000288.3:c.903+316G>A	NP_000279.1:n.903+316G>A
XM_005267019.3:c.789+316G>A	XP_005267076.1:n.789+316G>A
XM_006715502.1:c.609+316G>A	XP_006715565.1:n.609+316G>A
XM_005267019.4:c.789+316G>A	XP_005267076.1:n.789+316G>A
XM_006715502.2:c.609+316G>A	XP_006715565.1:n.609+316G>A
XM_017010934.2:c.*26+316G>A	XP_016866423.1:n.*26+316G>A
NM_000288.4:c.903+316G>A MANE Select	NP_000279.1:n.903+316G>A