Canonical Allele Identifier: CA239465

Gene: PEX6

Linked Data

• ClinVar Variation Id: 193806
• ClinVar RCV Id: RCV000173992 ; RCV000404054 ; RCV001083109 ; RCV001276732 ; RCV004552959 ; RCV002517668
• dbSNP Id: rs142899308
• ExAC: 6:42934097 G / A
• gnomAD v2: 6-42934097-G-A
• gnomAD v3: 6-42966359-G-A
• gnomAD v4: 6-42966359-G-A
• MyVariant Identifiers: chr6:g.42934097G>A (hg19) ; chr6:g.42966359G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42966359G>A , CM000668.2:g.42966359G>A	GRCh38
NC_000006.11:g.42934097G>A , CM000668.1:g.42934097G>A	GRCh37
NC_000006.10:g.43042075G>A	NCBI36
NG_008370.1:g.17885C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2183C>T MANE Select	ENSP00000303511.8:p.Pro728Leu
ENST00000244546.4:c.2115+145C>T	ENSP00000244546.4:n.2115+145C>T
ENST00000304611.12:c.2183C>T	ENSP00000303511.8:p.Pro728Leu
NM_000287.3:c.2183C>T	NP_000278.3:p.Pro728Leu
NM_001316313.1:c.1919C>T	NP_001303242.1:p.Pro640Leu
NR_133009.1:n.2208+145C>T
XM_011514661.1:c.2099C>T	XP_011512963.1:p.Pro700Leu
XM_011514661.2:c.2099C>T	XP_011512963.1:p.Pro700Leu
XR_001743466.2:n.3145C>T
NM_000287.4:c.2183C>T MANE Select	NP_000278.3:p.Pro728Leu
NM_001316313.2:c.1919C>T	NP_001303242.1:p.Pro640Leu
NR_133009.2:n.2146+145C>T