Canonical Allele Identifier: CA365855930

Gene: PEX7

Linked Data

• dbSNP Id: rs1405221185
• gnomAD v2: 6-137147555-A-G
• gnomAD v4: 6-136826417-A-G
• MyVariant Identifiers: chr6:g.137147555A>G (hg19) ; chr6:g.136826417A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826417A>G , CM000668.2:g.136826417A>G	GRCh38
NC_000006.11:g.137147555A>G , CM000668.1:g.137147555A>G	GRCh37
NC_000006.10:g.137189248A>G	NCBI36
NG_008462.1:g.8838A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.287A>G MANE Select	ENSP00000315680.3:p.Asp96Gly
ENST00000541292.6:c.287A>G	ENSP00000441004.1:p.Asp96Gly
ENST00000678002.1:c.162A>G
ENST00000678557.1:c.173A>G	ENSP00000502962.1:p.Asp58Gly
ENST00000678593.1:c.292A>G	ENSP00000503841.1:n.292A>G
ENST00000679286.1:c.167A>G	ENSP00000503168.1:p.Asp56Gly
ENST00000318471.4:c.287A>G	ENSP00000315680.3:p.Asp96Gly
ENST00000367756.8:c.287A>G	ENSP00000356730.4:p.Asp96Gly
ENST00000541292.5:c.287A>G	ENSP00000441004.1:p.Asp96Gly
NM_000288.3:c.287A>G	NP_000279.1:p.Asp96Gly
XM_005267019.3:c.173A>G	XP_005267076.1:p.Asp58Gly
XM_006715502.1:c.287A>G	XP_006715565.1:p.Asp96Gly
XM_011535900.1:c.287A>G	XP_011534202.1:p.Asp96Gly
XM_005267019.4:c.173A>G	XP_005267076.1:p.Asp58Gly
XM_006715502.2:c.287A>G	XP_006715565.1:p.Asp96Gly
XM_017010934.2:c.287A>G	XP_016866423.1:p.Asp96Gly
NM_000288.4:c.287A>G MANE Select	NP_000279.1:p.Asp96Gly