Canonical Allele Identifier: CA452231773

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898142-A-G
• MyVariant Identifiers: chr6:g.137219280A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898142A>G , CM000668.2:g.136898142A>G	GRCh38
NC_000006.11:g.137219280A>G , CM000668.1:g.137219280A>G	GRCh37
NC_000006.10:g.137260973A>G	NCBI36
NG_008462.1:g.80563A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.804A>G MANE Select	ENSP00000315680.3:p.Arg268=
ENST00000541292.6:c.*69A>G	ENSP00000441004.1:n.*69A>G
ENST00000678002.1:c.492A>G
ENST00000678557.1:c.690A>G	ENSP00000502962.1:p.Arg230=
ENST00000679286.1:c.684A>G	ENSP00000503168.1:p.Arg228=
ENST00000318471.4:c.804A>G	ENSP00000315680.3:p.Arg268=
NM_000288.3:c.804A>G	NP_000279.1:p.Arg268=
XM_005267019.3:c.690A>G	XP_005267076.1:p.Arg230=
XM_006715502.1:c.510A>G	XP_006715565.1:p.Arg170=
XM_011535900.1:c.527A>G	XP_011534202.1:p.Asp176Gly
XM_005267019.4:c.690A>G	XP_005267076.1:p.Arg230=
XM_006715502.2:c.510A>G	XP_006715565.1:p.Arg170=
XM_017010934.2:c.527A>G	XP_016866423.1:p.Asp176Gly
NM_000288.4:c.804A>G MANE Select	NP_000279.1:p.Arg268=