Canonical Allele Identifier: CA3811598

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978540G>C , CM000668.2:g.42978540G>C	GRCh38
NC_000006.11:g.42946278G>C , CM000668.1:g.42946278G>C	GRCh37
NC_000006.10:g.43054256G>C	NCBI36
NG_008370.1:g.5704C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.611C>G MANE Select	NP_000278.3:p.Ser204Ter
ENST00000304611.13:c.611C>G MANE Select	ENSP00000303511.8:p.Ser204Ter
NM_000287.3:c.611C>G	NP_000278.3:p.Ser204Ter
NM_001316313.1:c.611C>G	NP_001303242.1:p.Ser204Ter
NM_001316313.2:c.611C>G	NP_001303242.1:p.Ser204Ter
NR_133009.1:n.704C>G
NR_133009.2:n.642C>G
ENST00000244546.4:c.611C>G	ENSP00000244546.4:p.Ser204Ter
ENST00000304611.12:c.611C>G	ENSP00000303511.8:p.Ser204Ter
XM_011514661.1:c.611C>G	XP_011512963.1:p.Ser204Ter
XM_011514661.2:c.611C>G	XP_011512963.1:p.Ser204Ter
XR_001743466.2:n.1685C>G
XR_926246.1:n.704C>G