Canonical Allele Identifier: CA364170148

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42979149A>C , CM000668.2:g.42979149A>C	GRCh38
NC_000006.11:g.42946887A>C , CM000668.1:g.42946887A>C	GRCh37
NC_000006.10:g.43054865A>C	NCBI36
NG_008370.1:g.5095T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.2T>G MANE Select	NP_000278.3:p.Met1Arg
ENST00000304611.13:c.2T>G MANE Select	ENSP00000303511.8:p.Met1Arg
NM_000287.3:c.2T>G	NP_000278.3:p.Met1Arg
NM_001316313.1:c.2T>G	NP_001303242.1:p.Met1Arg
NM_001316313.2:c.2T>G	NP_001303242.1:p.Met1Arg
NR_133009.1:n.95T>G
NR_133009.2:n.33T>G
ENST00000244546.4:c.2T>G	ENSP00000244546.4:p.Met1Arg
ENST00000304611.12:c.2T>G	ENSP00000303511.8:p.Met1Arg
XM_011514661.1:c.2T>G	XP_011512963.1:p.Met1Arg
XM_011514661.2:c.2T>G	XP_011512963.1:p.Met1Arg
XR_001743466.2:n.1076T>G
XR_926246.1:n.95T>G