Canonical Allele Identifier: CA364155739

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937475A>C (hg19) ; chr6:g.42969737A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969737A>C , CM000668.2:g.42969737A>C	GRCh38
NC_000006.11:g.42937475A>C , CM000668.1:g.42937475A>C	GRCh37
NC_000006.10:g.43045453A>C	NCBI36
NG_008370.1:g.14507T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1298T>G MANE Select	ENSP00000303511.8:p.Leu433Trp
ENST00000244546.4:c.1298T>G	ENSP00000244546.4:p.Leu433Trp
ENST00000304611.12:c.1298T>G	ENSP00000303511.8:p.Leu433Trp
NM_000287.3:c.1298T>G	NP_000278.3:p.Leu433Trp
NM_001316313.1:c.1034T>G	NP_001303242.1:p.Leu345Trp
NR_133009.1:n.1391T>G
XM_011514661.1:c.1214T>G	XP_011512963.1:p.Leu405Trp
XR_926246.1:n.1391T>G
XM_011514661.2:c.1214T>G	XP_011512963.1:p.Leu405Trp
XR_001743466.2:n.2372T>G
NM_000287.4:c.1298T>G MANE Select	NP_000278.3:p.Leu433Trp
NM_001316313.2:c.1034T>G	NP_001303242.1:p.Leu345Trp
NR_133009.2:n.1329T>G