Canonical Allele Identifier: CA3811374

Gene: PEX6

Linked Data

• ClinVar Variation Id: 499985
• ClinVar RCV Id: RCV000595660 ; RCV002531057 ; RCV002532495
• dbSNP Id: rs115186444
• ExAC: 6:42937470 G / T
• gnomAD v2: 6-42937470-G-T
• gnomAD v3: 6-42969732-G-T
• gnomAD v4: 6-42969732-G-T
• MyVariant Identifiers: chr6:g.42937470G>T (hg19) ; chr6:g.42969732G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969732G>T , CM000668.2:g.42969732G>T	GRCh38
NC_000006.11:g.42937470G>T , CM000668.1:g.42937470G>T	GRCh37
NC_000006.10:g.43045448G>T	NCBI36
NG_008370.1:g.14512C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1303C>A MANE Select	ENSP00000303511.8:p.Pro435Thr
ENST00000244546.4:c.1303C>A	ENSP00000244546.4:p.Pro435Thr
ENST00000304611.12:c.1303C>A	ENSP00000303511.8:p.Pro435Thr
NM_000287.3:c.1303C>A	NP_000278.3:p.Pro435Thr
NM_001316313.1:c.1039C>A	NP_001303242.1:p.Pro347Thr
NR_133009.1:n.1396C>A
XM_011514661.1:c.1219C>A	XP_011512963.1:p.Pro407Thr
XR_926246.1:n.1396C>A
XM_011514661.2:c.1219C>A	XP_011512963.1:p.Pro407Thr
XR_001743466.2:n.2377C>A
NM_000287.4:c.1303C>A MANE Select	NP_000278.3:p.Pro435Thr
NM_001316313.2:c.1039C>A	NP_001303242.1:p.Pro347Thr
NR_133009.2:n.1334C>A