Canonical Allele Identifier: CA364150541

Gene: PEX6

Linked Data

• ClinVar Variation Id: 520796
• ClinVar RCV Id: RCV000624445 ; RCV001860423
• dbSNP Id: rs267608247
• MyVariant Identifiers: chr6:g.42932816C>A (hg19) ; chr6:g.42965078C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965078C>A , CM000668.2:g.42965078C>A	GRCh38
NC_000006.11:g.42932816C>A , CM000668.1:g.42932816C>A	GRCh37
NC_000006.10:g.43040794C>A	NCBI36
NG_008370.1:g.19166G>T
NG_008396.1:g.9317C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2663G>T MANE Select	ENSP00000303511.8:p.Arg888Leu
ENST00000244546.4:c.2416G>T	ENSP00000244546.4:n.2416G>T
ENST00000304611.12:c.2663G>T	ENSP00000303511.8:p.Arg888Leu
NM_000287.3:c.2663G>T	NP_000278.3:p.Arg888Leu
NM_001316313.1:c.2399G>T	NP_001303242.1:p.Arg800Leu
NR_133009.1:n.2509G>T
XM_011514661.1:c.2579G>T	XP_011512963.1:p.Arg860Leu
XM_011514661.2:c.2579G>T	XP_011512963.1:p.Arg860Leu
XR_001743466.2:n.3625G>T
NM_000287.4:c.2663G>T MANE Select	NP_000278.3:p.Arg888Leu
NM_001316313.2:c.2399G>T	NP_001303242.1:p.Arg800Leu
NR_133009.2:n.2447G>T