Canonical Allele Identifier: CA364151391

Gene: PEX6

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2440C>G MANE Select	NP_000278.3:p.Arg814Gly
ENST00000304611.13:c.2440C>G MANE Select	ENSP00000303511.8:p.Arg814Gly
NM_000287.3:c.2440C>G	NP_000278.3:p.Arg814Gly
NM_001316313.1:c.2176C>G	NP_001303242.1:p.Arg726Gly
NM_001316313.2:c.2176C>G	NP_001303242.1:p.Arg726Gly
NR_133009.1:n.2286C>G
NR_133009.2:n.2224C>G
ENST00000244546.4:c.2193C>G	ENSP00000244546.4:p.Gly731=
ENST00000304611.12:c.2440C>G	ENSP00000303511.8:p.Arg814Gly
XM_011514661.1:c.2356C>G	XP_011512963.1:p.Arg786Gly
XM_011514661.2:c.2356C>G	XP_011512963.1:p.Arg786Gly
XR_001743466.2:n.3402C>G