Canonical Allele Identifier: CA364155919

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937526A>T (hg19) ; chr6:g.42969788A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969788A>T , CM000668.2:g.42969788A>T	GRCh38
NC_000006.11:g.42937526A>T , CM000668.1:g.42937526A>T	GRCh37
NC_000006.10:g.43045504A>T	NCBI36
NG_008370.1:g.14456T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1247T>A MANE Select	ENSP00000303511.8:p.Leu416Gln
ENST00000244546.4:c.1247T>A	ENSP00000244546.4:p.Leu416Gln
ENST00000304611.12:c.1247T>A	ENSP00000303511.8:p.Leu416Gln
NM_000287.3:c.1247T>A	NP_000278.3:p.Leu416Gln
NM_001316313.1:c.983T>A	NP_001303242.1:p.Leu328Gln
NR_133009.1:n.1340T>A
XM_011514661.1:c.1163T>A	XP_011512963.1:p.Leu388Gln
XR_926246.1:n.1340T>A
XM_011514661.2:c.1163T>A	XP_011512963.1:p.Leu388Gln
XR_001743466.2:n.2321T>A
NM_000287.4:c.1247T>A MANE Select	NP_000278.3:p.Leu416Gln
NM_001316313.2:c.983T>A	NP_001303242.1:p.Leu328Gln
NR_133009.2:n.1278T>A