Canonical Allele Identifier: CA138232106

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42975040T>C , CM000668.2:g.42975040T>C	GRCh38
NC_000006.11:g.42942778T>C , CM000668.1:g.42942778T>C	GRCh37
NC_000006.10:g.43050756T>C	NCBI36
NG_008370.1:g.9204A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.883-2A>G MANE Select	NP_000278.3:n.883-2A>G
ENST00000304611.13:c.883-2A>G MANE Select	ENSP00000303511.8:n.883-2A>G
NM_000287.3:c.883-2A>G	NP_000278.3:n.883-2A>G
NM_001316313.1:c.619-2A>G	NP_001303242.1:n.619-2A>G
NM_001316313.2:c.619-2A>G	NP_001303242.1:n.619-2A>G
NR_133009.1:n.976-2A>G
NR_133009.2:n.914-2A>G
ENST00000244546.4:c.883-2A>G	ENSP00000244546.4:n.883-2A>G
ENST00000304611.12:c.883-2A>G	ENSP00000303511.8:n.883-2A>G
XM_011514661.1:c.883-2A>G	XP_011512963.1:n.883-2A>G
XM_011514661.2:c.883-2A>G	XP_011512963.1:n.883-2A>G
XR_001743466.2:n.1957-2A>G
XR_926246.1:n.976-2A>G