Canonical Allele Identifier: CA3811358
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1055069
ClinVar RCV Id: RCV001363680
dbSNP Id: rs779171611
ExAC: 6:42937412 T / C
gnomAD v2: 6-42937412-T-C
gnomAD v3: 6-42969674-T-C
gnomAD v4: 6-42969674-T-C
MyVariant Identifiers: chr6:g.42937412T>C (hg19) chr6:g.42969674T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969674T>C , CM000668.2:g.42969674T>C GRCh38
NC_000006.11:g.42937412T>C , CM000668.1:g.42937412T>C GRCh37
NC_000006.10:g.43045390T>C NCBI36
NG_008370.1:g.14570A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1361A>G MANE Select ENSP00000303511.8:p.Gln454Arg
ENST00000244546.4:c.1361A>G ENSP00000244546.4:p.Gln454Arg
ENST00000304611.12:c.1361A>G ENSP00000303511.8:p.Gln454Arg
NM_000287.3:c.1361A>G NP_000278.3:p.Gln454Arg
NM_001316313.1:c.1097A>G NP_001303242.1:p.Gln366Arg
NR_133009.1:n.1454A>G
XM_011514661.1:c.1277A>G XP_011512963.1:p.Gln426Arg
XR_926246.1:n.1454A>G
XM_011514661.2:c.1277A>G XP_011512963.1:p.Gln426Arg
XR_001743466.2:n.2435A>G
NM_000287.4:c.1361A>G MANE Select NP_000278.3:p.Gln454Arg
NM_001316313.2:c.1097A>G NP_001303242.1:p.Gln366Arg
NR_133009.2:n.1392A>G
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