Canonical Allele Identifier: CA148202403

Gene: PEX7

Linked Data

• dbSNP Id: rs149563404
• gnomAD v3: 6-136872108-A-T
• gnomAD v4: 6-136872108-A-T
• MyVariant Identifiers: chr6:g.137193246A>T (hg19) ; chr6:g.136872108A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872108A>T , CM000668.2:g.136872108A>T	GRCh38
NC_000006.11:g.137193246A>T , CM000668.1:g.137193246A>T	GRCh37
NC_000006.10:g.137234939A>T	NCBI36
NG_008462.1:g.54529A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.748-90A>T MANE Select	ENSP00000315680.3:n.748-90A>T
ENST00000541292.6:c.*13-90A>T	ENSP00000441004.1:n.*13-90A>T
ENST00000678002.1:c.436-90A>T
ENST00000678557.1:c.634-90A>T	ENSP00000502962.1:n.634-90A>T
ENST00000678593.1:c.753-90A>T	ENSP00000503841.1:n.753-90A>T
ENST00000679286.1:c.628-90A>T	ENSP00000503168.1:n.628-90A>T
ENST00000318471.4:c.748-90A>T	ENSP00000315680.3:n.748-90A>T
NM_000288.3:c.748-90A>T	NP_000279.1:n.748-90A>T
XM_005267019.3:c.634-90A>T	XP_005267076.1:n.634-90A>T
XM_006715502.1:c.454-90A>T	XP_006715565.1:n.454-90A>T
XM_011535900.1:c.526+25927A>T	XP_011534202.1:n.526+25927A>T
XM_005267019.4:c.634-90A>T	XP_005267076.1:n.634-90A>T
XM_006715502.2:c.454-90A>T	XP_006715565.1:n.454-90A>T
XM_017010934.2:c.526+25927A>T	XP_016866423.1:n.526+25927A>T
NM_000288.4:c.748-90A>T MANE Select	NP_000279.1:n.748-90A>T