Canonical Allele Identifier: CA3811377
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1500459
ClinVar RCV Id: RCV002042579
dbSNP Id: rs775373588
ExAC: 6:42937479 T / G
gnomAD v2: 6-42937479-T-G
gnomAD v3: 6-42969741-T-G
gnomAD v4: 6-42969741-T-G
MyVariant Identifiers: chr6:g.42937479T>G (hg19) chr6:g.42969741T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969741T>G , CM000668.2:g.42969741T>G GRCh38
NC_000006.11:g.42937479T>G , CM000668.1:g.42937479T>G GRCh37
NC_000006.10:g.43045457T>G NCBI36
NG_008370.1:g.14503A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1294A>C MANE Select ENSP00000303511.8:p.Ser432Arg
ENST00000244546.4:c.1294A>C ENSP00000244546.4:p.Ser432Arg
ENST00000304611.12:c.1294A>C ENSP00000303511.8:p.Ser432Arg
NM_000287.3:c.1294A>C NP_000278.3:p.Ser432Arg
NM_001316313.1:c.1030A>C NP_001303242.1:p.Ser344Arg
NR_133009.1:n.1387A>C
XM_011514661.1:c.1210A>C XP_011512963.1:p.Ser404Arg
XR_926246.1:n.1387A>C
XM_011514661.2:c.1210A>C XP_011512963.1:p.Ser404Arg
XR_001743466.2:n.2368A>C
NM_000287.4:c.1294A>C MANE Select NP_000278.3:p.Ser432Arg
NM_001316313.2:c.1030A>C NP_001303242.1:p.Ser344Arg
NR_133009.2:n.1325A>C
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