Canonical Allele Identifier: CA365766670

Gene: PEX7

Linked Data

• dbSNP Id: rs1486868571
• gnomAD v2: 6-137219327-A-G
• gnomAD v4: 6-136898189-A-G
• MyVariant Identifiers: chr6:g.137219327A>G (hg19) ; chr6:g.136898189A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898189A>G , CM000668.2:g.136898189A>G	GRCh38
NC_000006.11:g.137219327A>G , CM000668.1:g.137219327A>G	GRCh37
NC_000006.10:g.137261020A>G	NCBI36
NG_008462.1:g.80610A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.851A>G MANE Select	ENSP00000315680.3:p.His284Arg
ENST00000541292.6:c.*116A>G	ENSP00000441004.1:n.*116A>G
ENST00000678002.1:c.539A>G
ENST00000678557.1:c.737A>G	ENSP00000502962.1:p.His246Arg
ENST00000679286.1:c.731A>G	ENSP00000503168.1:p.His244Arg
ENST00000318471.4:c.851A>G	ENSP00000315680.3:p.His284Arg
NM_000288.3:c.851A>G	NP_000279.1:p.His284Arg
XM_005267019.3:c.737A>G	XP_005267076.1:p.His246Arg
XM_006715502.1:c.557A>G	XP_006715565.1:p.His186Arg
XM_011535900.1:c.574A>G	XP_011534202.1:p.Ile192Val
XM_005267019.4:c.737A>G	XP_005267076.1:p.His246Arg
XM_006715502.2:c.557A>G	XP_006715565.1:p.His186Arg
XM_017010934.2:c.574A>G	XP_016866423.1:p.Ile192Val
NM_000288.4:c.851A>G MANE Select	NP_000279.1:p.His284Arg