Canonical Allele Identifier: CA148218885

Gene: PEX7

Linked Data

• dbSNP Id: rs768995824
• gnomAD v3: 6-136898327-T-G
• gnomAD v4: 6-136898327-T-G
• MyVariant Identifiers: chr6:g.137219465T>G (hg19) ; chr6:g.136898327T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898327T>G , CM000668.2:g.136898327T>G	GRCh38
NC_000006.11:g.137219465T>G , CM000668.1:g.137219465T>G	GRCh37
NC_000006.10:g.137261158T>G	NCBI36
NG_008462.1:g.80748T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+86T>G MANE Select	ENSP00000315680.3:n.903+86T>G
ENST00000541292.6:c.*168+86T>G	ENSP00000441004.1:n.*168+86T>G
ENST00000678002.1:c.591+86T>G
ENST00000678557.1:c.789+86T>G	ENSP00000502962.1:n.789+86T>G
ENST00000679286.1:c.783+86T>G	ENSP00000503168.1:n.783+86T>G
ENST00000318471.4:c.903+86T>G	ENSP00000315680.3:n.903+86T>G
NM_000288.3:c.903+86T>G	NP_000279.1:n.903+86T>G
XM_005267019.3:c.789+86T>G	XP_005267076.1:n.789+86T>G
XM_006715502.1:c.609+86T>G	XP_006715565.1:n.609+86T>G
XM_005267019.4:c.789+86T>G	XP_005267076.1:n.789+86T>G
XM_006715502.2:c.609+86T>G	XP_006715565.1:n.609+86T>G
XM_017010934.2:c.*26+86T>G	XP_016866423.1:n.*26+86T>G
NM_000288.4:c.903+86T>G MANE Select	NP_000279.1:n.903+86T>G