Canonical Allele Identifier: CA2680489789

Gene: PEX7

Linked Data

• gnomAD v4: 6-136866586-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866586A>C , CM000668.2:g.136866586A>C	GRCh38
NC_000006.11:g.137187724A>C , CM000668.1:g.137187724A>C	GRCh37
NC_000006.10:g.137229417A>C	NCBI36
NG_008462.1:g.49007A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.527-41A>C MANE Select	ENSP00000315680.3:n.527-41A>C
ENST00000541292.6:c.527-41A>C	ENSP00000441004.1:n.527-41A>C
ENST00000678002.1:c.215-41A>C
ENST00000678557.1:c.413-41A>C	ENSP00000502962.1:n.413-41A>C
ENST00000678593.1:c.532-41A>C	ENSP00000503841.1:n.532-41A>C
ENST00000679286.1:c.407-41A>C	ENSP00000503168.1:n.407-41A>C
ENST00000318471.4:c.527-41A>C	ENSP00000315680.3:n.527-41A>C
ENST00000541292.5:c.527-41A>C	ENSP00000441004.1:n.527-41A>C
NM_000288.3:c.527-41A>C	NP_000279.1:n.527-41A>C
XM_005267019.3:c.413-41A>C	XP_005267076.1:n.413-41A>C
XM_006715502.1:c.340-3304A>C	XP_006715565.1:n.340-3304A>C
XM_011535900.1:c.526+20405A>C	XP_011534202.1:n.526+20405A>C
XM_005267019.4:c.413-41A>C	XP_005267076.1:n.413-41A>C
XM_006715502.2:c.340-3304A>C	XP_006715565.1:n.340-3304A>C
XM_017010934.2:c.526+20405A>C	XP_016866423.1:n.526+20405A>C
NM_000288.4:c.527-41A>C MANE Select	NP_000279.1:n.527-41A>C