Canonical Allele Identifier: CA570744323

Gene: PEX7

Linked Data

• dbSNP Id: rs1245617412
• gnomAD v2: 6-137147363-T-A
• gnomAD v3: 6-136826225-T-A
• gnomAD v4: 6-136826225-T-A
• MyVariant Identifiers: chr6:g.137147363T>A (hg19) ; chr6:g.136826225T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826225T>A , CM000668.2:g.136826225T>A	GRCh38
NC_000006.11:g.137147363T>A , CM000668.1:g.137147363T>A	GRCh37
NC_000006.10:g.137189056T>A	NCBI36
NG_008462.1:g.8646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.189-94T>A MANE Select	ENSP00000315680.3:n.189-94T>A
ENST00000541292.6:c.189-94T>A	ENSP00000441004.1:n.189-94T>A
ENST00000678002.1:c.59-89T>A
ENST00000678557.1:c.75-94T>A	ENSP00000502962.1:n.75-94T>A
ENST00000678593.1:c.189-89T>A	ENSP00000503841.1:n.189-89T>A
ENST00000679286.1:c.69-94T>A	ENSP00000503168.1:n.69-94T>A
ENST00000318471.4:c.189-94T>A	ENSP00000315680.3:n.189-94T>A
ENST00000367756.8:c.189-94T>A	ENSP00000356730.4:n.189-94T>A
ENST00000541292.5:c.189-94T>A	ENSP00000441004.1:n.189-94T>A
NM_000288.3:c.189-94T>A	NP_000279.1:n.189-94T>A
XM_005267019.3:c.75-94T>A	XP_005267076.1:n.75-94T>A
XM_006715502.1:c.189-94T>A	XP_006715565.1:n.189-94T>A
XM_011535900.1:c.189-94T>A	XP_011534202.1:n.189-94T>A
XM_005267019.4:c.75-94T>A	XP_005267076.1:n.75-94T>A
XM_006715502.2:c.189-94T>A	XP_006715565.1:n.189-94T>A
XM_017010934.2:c.189-94T>A	XP_016866423.1:n.189-94T>A
NM_000288.4:c.189-94T>A MANE Select	NP_000279.1:n.189-94T>A