Canonical Allele Identifier: CA364151756

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965791T>G , CM000668.2:g.42965791T>G	GRCh38
NC_000006.11:g.42933529T>G , CM000668.1:g.42933529T>G	GRCh37
NC_000006.10:g.43041507T>G	NCBI36
NG_008370.1:g.18453A>C
NG_008396.1:g.10030T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2363-2A>C MANE Select	NP_000278.3:n.2363-2A>C
ENST00000304611.13:c.2363-2A>C MANE Select	ENSP00000303511.8:n.2363-2A>C
NM_000287.3:c.2363-2A>C	NP_000278.3:n.2363-2A>C
NM_001316313.1:c.2099-2A>C	NP_001303242.1:n.2099-2A>C
NM_001316313.2:c.2099-2A>C	NP_001303242.1:n.2099-2A>C
NR_133009.1:n.2209-2A>C
NR_133009.2:n.2147-2A>C
ENST00000244546.4:c.2116-2A>C	ENSP00000244546.4:n.2116-2A>C
ENST00000304611.12:c.2363-2A>C	ENSP00000303511.8:n.2363-2A>C
XM_011514661.1:c.2279-2A>C	XP_011512963.1:n.2279-2A>C
XM_011514661.2:c.2279-2A>C	XP_011512963.1:n.2279-2A>C
XR_001743466.2:n.3325-2A>C