Canonical Allele Identifier: CA3134713008

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898192A= , CM000668.2:g.136898192A=	GRCh38
NC_000006.11:g.137219330A= , CM000668.1:g.137219330A=	GRCh37
NC_000006.10:g.137261023A=	NCBI36
NG_008462.1:g.80613A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.854A= MANE Select	ENSP00000315680.3:p.His285=
ENST00000541292.6:c.*119A=	ENSP00000441004.1:n.*119A=
ENST00000678002.1:c.542A=
ENST00000678557.1:c.740A=	ENSP00000502962.1:p.His247=
ENST00000679286.1:c.734A=	ENSP00000503168.1:p.His245=
ENST00000318471.4:c.854A=	ENSP00000315680.3:p.His285=
NM_000288.3:c.854A=	NP_000279.1:p.His285=
XM_005267019.3:c.740A=	XP_005267076.1:p.His247=
XM_006715502.1:c.560A=	XP_006715565.1:p.His187=
XM_011535900.1:c.577A=	XP_011534202.1:p.Ile193=
XM_005267019.4:c.740A=	XP_005267076.1:p.His247=
XM_006715502.2:c.560A=	XP_006715565.1:p.His187=
XM_017010934.2:c.577A=	XP_016866423.1:p.Ile193=
NM_000288.4:c.854A= MANE Select	NP_000279.1:p.His285=