Canonical Allele Identifier: CA364167352

Gene: PEX6

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978861A>C , CM000668.2:g.42978861A>C	GRCh38
NC_000006.11:g.42946599A>C , CM000668.1:g.42946599A>C	GRCh37
NC_000006.10:g.43054577A>C	NCBI36
NG_008370.1:g.5383T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000287.4:c.290T>G MANE Select	NP_000278.3:p.Val97Gly
ENST00000304611.13:c.290T>G MANE Select	ENSP00000303511.8:p.Val97Gly
NM_000287.3:c.290T>G	NP_000278.3:p.Val97Gly
NM_001316313.1:c.290T>G	NP_001303242.1:p.Val97Gly
NM_001316313.2:c.290T>G	NP_001303242.1:p.Val97Gly
NR_133009.1:n.383T>G
NR_133009.2:n.321T>G
ENST00000244546.4:c.290T>G	ENSP00000244546.4:p.Val97Gly
ENST00000304611.12:c.290T>G	ENSP00000303511.8:p.Val97Gly
XM_011514661.1:c.290T>G	XP_011512963.1:p.Val97Gly
XM_011514661.2:c.290T>G	XP_011512963.1:p.Val97Gly
XR_001743466.2:n.1364T>G
XR_926246.1:n.383T>G