Canonical Allele Identifier: CA364151411

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965717C>G , CM000668.2:g.42965717C>G	GRCh38
NC_000006.11:g.42933455C>G , CM000668.1:g.42933455C>G	GRCh37
NC_000006.10:g.43041433C>G	NCBI36
NG_008370.1:g.18527G>C
NG_008396.1:g.9956C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2435G>C MANE Select	NP_000278.3:p.Arg812Pro
ENST00000304611.13:c.2435G>C MANE Select	ENSP00000303511.8:p.Arg812Pro
NM_000287.3:c.2435G>C	NP_000278.3:p.Arg812Pro
NM_001316313.1:c.2171G>C	NP_001303242.1:p.Arg724Pro
NM_001316313.2:c.2171G>C	NP_001303242.1:p.Arg724Pro
NR_133009.1:n.2281G>C
NR_133009.2:n.2219G>C
ENST00000244546.4:c.2188G>C	ENSP00000244546.4:p.Gly730Arg
ENST00000304611.12:c.2435G>C	ENSP00000303511.8:p.Arg812Pro
XM_011514661.1:c.2351G>C	XP_011512963.1:p.Arg784Pro
XM_011514661.2:c.2351G>C	XP_011512963.1:p.Arg784Pro
XR_001743466.2:n.3397G>C