Canonical Allele Identifier: CA2680490624

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872114-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872114A>C , CM000668.2:g.136872114A>C	GRCh38
NC_000006.11:g.137193252A>C , CM000668.1:g.137193252A>C	GRCh37
NC_000006.10:g.137234945A>C	NCBI36
NG_008462.1:g.54535A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-84A>C MANE Select	ENSP00000315680.3:n.748-84A>C
ENST00000541292.6:c.*13-84A>C	ENSP00000441004.1:n.*13-84A>C
ENST00000678002.1:c.436-84A>C
ENST00000678557.1:c.634-84A>C	ENSP00000502962.1:n.634-84A>C
ENST00000678593.1:c.753-84A>C	ENSP00000503841.1:n.753-84A>C
ENST00000679286.1:c.628-84A>C	ENSP00000503168.1:n.628-84A>C
ENST00000318471.4:c.748-84A>C	ENSP00000315680.3:n.748-84A>C
NM_000288.3:c.748-84A>C	NP_000279.1:n.748-84A>C
XM_005267019.3:c.634-84A>C	XP_005267076.1:n.634-84A>C
XM_006715502.1:c.454-84A>C	XP_006715565.1:n.454-84A>C
XM_011535900.1:c.526+25933A>C	XP_011534202.1:n.526+25933A>C
XM_005267019.4:c.634-84A>C	XP_005267076.1:n.634-84A>C
XM_006715502.2:c.454-84A>C	XP_006715565.1:n.454-84A>C
XM_017010934.2:c.526+25933A>C	XP_016866423.1:n.526+25933A>C
NM_000288.4:c.748-84A>C MANE Select	NP_000279.1:n.748-84A>C