Canonical Allele Identifier: CA2680490294

Gene: PEX7

Linked Data

• dbSNP Id: rs1775688045
• gnomAD v4: 6-136898267-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898267C>T , CM000668.2:g.136898267C>T	GRCh38
NC_000006.11:g.137219405C>T , CM000668.1:g.137219405C>T	GRCh37
NC_000006.10:g.137261098C>T	NCBI36
NG_008462.1:g.80688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.903+26C>T MANE Select	ENSP00000315680.3:n.903+26C>T
ENST00000541292.6:c.*168+26C>T	ENSP00000441004.1:n.*168+26C>T
ENST00000678002.1:c.591+26C>T
ENST00000678557.1:c.789+26C>T	ENSP00000502962.1:n.789+26C>T
ENST00000679286.1:c.783+26C>T	ENSP00000503168.1:n.783+26C>T
ENST00000318471.4:c.903+26C>T	ENSP00000315680.3:n.903+26C>T
NM_000288.3:c.903+26C>T	NP_000279.1:n.903+26C>T
XM_005267019.3:c.789+26C>T	XP_005267076.1:n.789+26C>T
XM_006715502.1:c.609+26C>T	XP_006715565.1:n.609+26C>T
XM_005267019.4:c.789+26C>T	XP_005267076.1:n.789+26C>T
XM_006715502.2:c.609+26C>T	XP_006715565.1:n.609+26C>T
XM_017010934.2:c.*26+26C>T	XP_016866423.1:n.*26+26C>T
NM_000288.4:c.903+26C>T MANE Select	NP_000279.1:n.903+26C>T