Canonical Allele Identifier: CA364156107

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969916A>G , CM000668.2:g.42969916A>G	GRCh38
NC_000006.11:g.42937654A>G , CM000668.1:g.42937654A>G	GRCh37
NC_000006.10:g.43045632A>G	NCBI36
NG_008370.1:g.14328T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.1202T>C MANE Select	NP_000278.3:p.Leu401Ser
ENST00000304611.13:c.1202T>C MANE Select	ENSP00000303511.8:p.Leu401Ser
NM_000287.3:c.1202T>C	NP_000278.3:p.Leu401Ser
NM_001316313.1:c.938T>C	NP_001303242.1:p.Leu313Ser
NM_001316313.2:c.938T>C	NP_001303242.1:p.Leu313Ser
NR_133009.1:n.1295T>C
NR_133009.2:n.1233T>C
ENST00000244546.4:c.1202T>C	ENSP00000244546.4:p.Leu401Ser
ENST00000304611.12:c.1202T>C	ENSP00000303511.8:p.Leu401Ser
XM_011514661.1:c.1118T>C	XP_011512963.1:p.Leu373Ser
XM_011514661.2:c.1118T>C	XP_011512963.1:p.Leu373Ser
XR_001743466.2:n.2276T>C
XR_926246.1:n.1295T>C