Canonical Allele Identifier: CA1624308287

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965712G= , CM000668.2:g.42965712G=	GRCh38
NC_000006.11:g.42933450G= , CM000668.1:g.42933450G=	GRCh37
NC_000006.10:g.43041428G=	NCBI36
NG_008370.1:g.18532C=
NG_008396.1:g.9951G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2440C= MANE Select	NP_000278.3:p.Arg814=
ENST00000304611.13:c.2440C= MANE Select	ENSP00000303511.8:p.Arg814=
NM_000287.3:c.2440C=	NP_000278.3:p.Arg814=
NM_001316313.1:c.2176C=	NP_001303242.1:p.Arg726=
NM_001316313.2:c.2176C=	NP_001303242.1:p.Arg726=
NR_133009.1:n.2286C=
NR_133009.2:n.2224C=
ENST00000244546.4:c.2193C=	ENSP00000244546.4:p.Gly731=
ENST00000304611.12:c.2440C=	ENSP00000303511.8:p.Arg814=
XM_011514661.1:c.2356C=	XP_011512963.1:p.Arg786=
XM_011514661.2:c.2356C=	XP_011512963.1:p.Arg786=
XR_001743466.2:n.3402C=