Canonical Allele Identifier: CA2578751739

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866549-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866549C>A , CM000668.2:g.136866549C>A	GRCh38
NC_000006.11:g.137187687C>A , CM000668.1:g.137187687C>A	GRCh37
NC_000006.10:g.137229380C>A	NCBI36
NG_008462.1:g.48970C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.527-78C>A MANE Select	ENSP00000315680.3:n.527-78C>A
ENST00000541292.6:c.527-78C>A	ENSP00000441004.1:n.527-78C>A
ENST00000678002.1:c.215-78C>A
ENST00000678557.1:c.413-78C>A	ENSP00000502962.1:n.413-78C>A
ENST00000678593.1:c.532-78C>A	ENSP00000503841.1:n.532-78C>A
ENST00000679286.1:c.407-78C>A	ENSP00000503168.1:n.407-78C>A
ENST00000318471.4:c.527-78C>A	ENSP00000315680.3:n.527-78C>A
ENST00000541292.5:c.527-78C>A	ENSP00000441004.1:n.527-78C>A
NM_000288.3:c.527-78C>A	NP_000279.1:n.527-78C>A
XM_005267019.3:c.413-78C>A	XP_005267076.1:n.413-78C>A
XM_006715502.1:c.340-3341C>A	XP_006715565.1:n.340-3341C>A
XM_011535900.1:c.526+20368C>A	XP_011534202.1:n.526+20368C>A
XM_005267019.4:c.413-78C>A	XP_005267076.1:n.413-78C>A
XM_006715502.2:c.340-3341C>A	XP_006715565.1:n.340-3341C>A
XM_017010934.2:c.526+20368C>A	XP_016866423.1:n.526+20368C>A
NM_000288.4:c.527-78C>A MANE Select	NP_000279.1:n.527-78C>A