Canonical Allele Identifier: CA819535201

Gene: PEX7

Linked Data

• dbSNP Id: rs1013414538
• gnomAD v3: 6-136872163-C-A
• gnomAD v4: 6-136872163-C-A
• MyVariant Identifiers: chr6:g.137193301C>A (hg19) ; chr6:g.136872163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872163C>A , CM000668.2:g.136872163C>A	GRCh38
NC_000006.11:g.137193301C>A , CM000668.1:g.137193301C>A	GRCh37
NC_000006.10:g.137234994C>A	NCBI36
NG_008462.1:g.54584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-35C>A MANE Select	ENSP00000315680.3:n.748-35C>A
ENST00000541292.6:c.*13-35C>A	ENSP00000441004.1:n.*13-35C>A
ENST00000678002.1:c.436-35C>A
ENST00000678557.1:c.634-35C>A	ENSP00000502962.1:n.634-35C>A
ENST00000678593.1:c.753-35C>A	ENSP00000503841.1:n.753-35C>A
ENST00000679286.1:c.628-35C>A	ENSP00000503168.1:n.628-35C>A
ENST00000318471.4:c.748-35C>A	ENSP00000315680.3:n.748-35C>A
NM_000288.3:c.748-35C>A	NP_000279.1:n.748-35C>A
XM_005267019.3:c.634-35C>A	XP_005267076.1:n.634-35C>A
XM_006715502.1:c.454-35C>A	XP_006715565.1:n.454-35C>A
XM_011535900.1:c.527-25979C>A	XP_011534202.1:n.527-25979C>A
XM_005267019.4:c.634-35C>A	XP_005267076.1:n.634-35C>A
XM_006715502.2:c.454-35C>A	XP_006715565.1:n.454-35C>A
XM_017010934.2:c.527-25979C>A	XP_016866423.1:n.527-25979C>A
NM_000288.4:c.748-35C>A MANE Select	NP_000279.1:n.748-35C>A