Canonical Allele Identifier: CA1624318111

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978497G= , CM000668.2:g.42978497G=	GRCh38
NC_000006.11:g.42946235G= , CM000668.1:g.42946235G=	GRCh37
NC_000006.10:g.43054213G=	NCBI36
NG_008370.1:g.5747C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.654C= MANE Select	NP_000278.3:p.Phe218=
ENST00000304611.13:c.654C= MANE Select	ENSP00000303511.8:p.Phe218=
NM_000287.3:c.654C=	NP_000278.3:p.Phe218=
NM_001316313.1:c.618+36C=	NP_001303242.1:n.618+36C=
NM_001316313.2:c.618+36C=	NP_001303242.1:n.618+36C=
NR_133009.1:n.747C=
NR_133009.2:n.685C=
ENST00000244546.4:c.654C=	ENSP00000244546.4:p.Phe218=
ENST00000304611.12:c.654C=	ENSP00000303511.8:p.Phe218=
XM_011514661.1:c.654C=	XP_011512963.1:p.Phe218=
XM_011514661.2:c.654C=	XP_011512963.1:p.Phe218=
XR_001743466.2:n.1728C=
XR_926246.1:n.747C=