Canonical Allele Identifier: CA3810920

Gene: PEX6

Linked Data

• ClinVar Variation Id: 845895
• ClinVar RCV Id: RCV001049060 ; RCV001274622 ; RCV001823180 ; RCV002479299 ; RCV003156137 ; RCV003473637
• dbSNP Id: rs62641232
• ExAC: 6:42932599 G / A
• gnomAD v2: 6-42932599-G-A
• gnomAD v3: 6-42964861-G-A
• gnomAD v4: 6-42964861-G-A
• MyVariant Identifiers: chr6:g.42932599G>A (hg19) ; chr6:g.42964861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964861G>A , CM000668.2:g.42964861G>A	GRCh38
NC_000006.11:g.42932599G>A , CM000668.1:g.42932599G>A	GRCh37
NC_000006.10:g.43040577G>A	NCBI36
NG_008370.1:g.19383C>T
NG_008396.1:g.9100G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2735C>T MANE Select	ENSP00000303511.8:p.Ala912Val
ENST00000244546.4:c.2488C>T	ENSP00000244546.4:n.2488C>T
ENST00000304611.12:c.2735C>T	ENSP00000303511.8:p.Ala912Val
NM_000287.3:c.2735C>T	NP_000278.3:p.Ala912Val
NM_001316313.1:c.2471C>T	NP_001303242.1:p.Ala824Val
NR_133009.1:n.2581C>T
XM_011514661.1:c.2651C>T	XP_011512963.1:p.Ala884Val
XM_011514661.2:c.2651C>T	XP_011512963.1:p.Ala884Val
XR_001743466.2:n.3697C>T
NM_000287.4:c.2735C>T MANE Select	NP_000278.3:p.Ala912Val
NM_001316313.2:c.2471C>T	NP_001303242.1:p.Ala824Val
NR_133009.2:n.2519C>T