Canonical Allele Identifier: CA2578751769

Gene: PEX7

Linked Data

• gnomAD v4: 6-136869807-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869807C>T , CM000668.2:g.136869807C>T	GRCh38
NC_000006.11:g.137190945C>T , CM000668.1:g.137190945C>T	GRCh37
NC_000006.10:g.137232638C>T	NCBI36
NG_008462.1:g.52228C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.634-83C>T MANE Select	ENSP00000315680.3:n.634-83C>T
ENST00000541292.6:c.634-83C>T	ENSP00000441004.1:n.634-83C>T
ENST00000678002.1:c.322-83C>T
ENST00000678557.1:c.520-83C>T	ENSP00000502962.1:n.520-83C>T
ENST00000678593.1:c.639-83C>T	ENSP00000503841.1:n.639-83C>T
ENST00000679286.1:c.514-83C>T	ENSP00000503168.1:n.514-83C>T
ENST00000318471.4:c.634-83C>T	ENSP00000315680.3:n.634-83C>T
ENST00000541292.5:c.634-83C>T	ENSP00000441004.1:n.634-83C>T
NM_000288.3:c.634-83C>T	NP_000279.1:n.634-83C>T
XM_005267019.3:c.520-83C>T	XP_005267076.1:n.520-83C>T
XM_006715502.1:c.340-83C>T	XP_006715565.1:n.340-83C>T
XM_011535900.1:c.526+23626C>T	XP_011534202.1:n.526+23626C>T
XM_005267019.4:c.520-83C>T	XP_005267076.1:n.520-83C>T
XM_006715502.2:c.340-83C>T	XP_006715565.1:n.340-83C>T
XM_017010934.2:c.526+23626C>T	XP_016866423.1:n.526+23626C>T
NM_000288.4:c.634-83C>T MANE Select	NP_000279.1:n.634-83C>T