Canonical Allele Identifier: CA364156022

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937629C>G (hg19) ; chr6:g.42969891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969891C>G , CM000668.2:g.42969891C>G	GRCh38
NC_000006.11:g.42937629C>G , CM000668.1:g.42937629C>G	GRCh37
NC_000006.10:g.43045607C>G	NCBI36
NG_008370.1:g.14353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1227G>C MANE Select	ENSP00000303511.8:p.Leu409Phe
ENST00000244546.4:c.1227G>C	ENSP00000244546.4:p.Leu409Phe
ENST00000304611.12:c.1227G>C	ENSP00000303511.8:p.Leu409Phe
NM_000287.3:c.1227G>C	NP_000278.3:p.Leu409Phe
NM_001316313.1:c.963G>C	NP_001303242.1:p.Leu321Phe
NR_133009.1:n.1320G>C
XM_011514661.1:c.1143G>C	XP_011512963.1:p.Leu381Phe
XR_926246.1:n.1320G>C
XM_011514661.2:c.1143G>C	XP_011512963.1:p.Leu381Phe
XR_001743466.2:n.2301G>C
NM_000287.4:c.1227G>C MANE Select	NP_000278.3:p.Leu409Phe
NM_001316313.2:c.963G>C	NP_001303242.1:p.Leu321Phe
NR_133009.2:n.1258G>C