Canonical Allele Identifier: CA3811368

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1113159
• ClinVar RCV Id: RCV001440450
• dbSNP Id: rs753300241
• ExAC: 6:42937447 C / T
• gnomAD v2: 6-42937447-C-T
• gnomAD v4: 6-42969709-C-T
• MyVariant Identifiers: chr6:g.42937447C>T (hg19) ; chr6:g.42969709C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969709C>T , CM000668.2:g.42969709C>T	GRCh38
NC_000006.11:g.42937447C>T , CM000668.1:g.42937447C>T	GRCh37
NC_000006.10:g.43045425C>T	NCBI36
NG_008370.1:g.14535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1326G>A MANE Select	ENSP00000303511.8:p.Val442=
ENST00000244546.4:c.1326G>A	ENSP00000244546.4:p.Val442=
ENST00000304611.12:c.1326G>A	ENSP00000303511.8:p.Val442=
NM_000287.3:c.1326G>A	NP_000278.3:p.Val442=
NM_001316313.1:c.1062G>A	NP_001303242.1:p.Val354=
NR_133009.1:n.1419G>A
XM_011514661.1:c.1242G>A	XP_011512963.1:p.Val414=
XR_926246.1:n.1419G>A
XM_011514661.2:c.1242G>A	XP_011512963.1:p.Val414=
XR_001743466.2:n.2400G>A
NM_000287.4:c.1326G>A MANE Select	NP_000278.3:p.Val442=
NM_001316313.2:c.1062G>A	NP_001303242.1:p.Val354=
NR_133009.2:n.1357G>A