Canonical Allele Identifier: CA2680487864

Gene: PEX7

Linked Data

• gnomAD v4: 6-136822606-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822606G>T , CM000668.2:g.136822606G>T	GRCh38
NC_000006.11:g.137143744G>T , CM000668.1:g.137143744G>T	GRCh37
NC_000006.10:g.137185437G>T	NCBI36
NG_008462.1:g.5027G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.-60G>T MANE Select	ENSP00000315680.3:n.-60G>T
ENST00000541292.6:c.-60G>T	ENSP00000441004.1:n.-60G>T
ENST00000318471.4:c.-60G>T	ENSP00000315680.3:n.-60G>T
ENST00000367756.8:c.-60G>T	ENSP00000356730.4:n.-60G>T
ENST00000541292.5:c.-60G>T	ENSP00000441004.1:n.-60G>T
NM_000288.3:c.-60G>T	NP_000279.1:n.-60G>T
XM_006715502.1:c.-60G>T	XP_006715565.1:n.-60G>T
XM_011535900.1:c.-60G>T	XP_011534202.1:n.-60G>T
XM_006715502.2:c.-60G>T	XP_006715565.1:n.-60G>T
XM_017010934.2:c.-60G>T	XP_016866423.1:n.-60G>T
NM_000288.4:c.-60G>T MANE Select	NP_000279.1:n.-60G>T