Canonical Allele Identifier: CA138222768

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966044C>T , CM000668.2:g.42966044C>T	GRCh38
NC_000006.11:g.42933782C>T , CM000668.1:g.42933782C>T	GRCh37
NC_000006.10:g.43041760C>T	NCBI36
NG_008370.1:g.18200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2362G>A MANE Select	ENSP00000303511.8:p.Val788Met
ENST00000244546.4:c.2116-255G>A	ENSP00000244546.4:n.2116-255G>A
ENST00000304611.12:c.2362G>A	ENSP00000303511.8:p.Val788Met
NM_000287.3:c.2362G>A	NP_000278.3:p.Val788Met
NM_001316313.1:c.2098G>A	NP_001303242.1:p.Val700Met
NR_133009.1:n.2209-255G>A
XM_011514661.1:c.2278G>A	XP_011512963.1:p.Val760Met
XM_011514661.2:c.2278G>A	XP_011512963.1:p.Val760Met
XR_001743466.2:n.3324G>A
NM_000287.4:c.2362G>A MANE Select	NP_000278.3:p.Val788Met
NM_001316313.2:c.2098G>A	NP_001303242.1:p.Val700Met
NR_133009.2:n.2147-255G>A