Canonical Allele Identifier: CA138238675

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978981A>G , CM000668.2:g.42978981A>G	GRCh38
NC_000006.11:g.42946719A>G , CM000668.1:g.42946719A>G	GRCh37
NC_000006.10:g.43054697A>G	NCBI36
NG_008370.1:g.5263T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.170T>C MANE Select	NP_000278.3:p.Leu57Pro
ENST00000304611.13:c.170T>C MANE Select	ENSP00000303511.8:p.Leu57Pro
NM_000287.3:c.170T>C	NP_000278.3:p.Leu57Pro
NM_001316313.1:c.170T>C	NP_001303242.1:p.Leu57Pro
NM_001316313.2:c.170T>C	NP_001303242.1:p.Leu57Pro
NR_133009.1:n.263T>C
NR_133009.2:n.201T>C
ENST00000244546.4:c.170T>C	ENSP00000244546.4:p.Leu57Pro
ENST00000304611.12:c.170T>C	ENSP00000303511.8:p.Leu57Pro
XM_011514661.1:c.170T>C	XP_011512963.1:p.Leu57Pro
XM_011514661.2:c.170T>C	XP_011512963.1:p.Leu57Pro
XR_001743466.2:n.1244T>C
XR_926246.1:n.263T>C