Canonical Allele Identifier: CA3811380
Gene: PEX6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1406310
ClinVar RCV Id: RCV001935399
dbSNP Id: rs774044599
ExAC: 6:42937506 G / C
gnomAD v2: 6-42937506-G-C
gnomAD v3: 6-42969768-G-C
gnomAD v4: 6-42969768-G-C
MyVariant Identifiers: chr6:g.42937506G>C (hg19) chr6:g.42969768G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42969768G>C , CM000668.2:g.42969768G>C GRCh38
NC_000006.11:g.42937506G>C , CM000668.1:g.42937506G>C GRCh37
NC_000006.10:g.43045484G>C NCBI36
NG_008370.1:g.14476C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000304611.13:c.1267C>G MANE Select ENSP00000303511.8:p.Pro423Ala
ENST00000244546.4:c.1267C>G ENSP00000244546.4:p.Pro423Ala
ENST00000304611.12:c.1267C>G ENSP00000303511.8:p.Pro423Ala
NM_000287.3:c.1267C>G NP_000278.3:p.Pro423Ala
NM_001316313.1:c.1003C>G NP_001303242.1:p.Pro335Ala
NR_133009.1:n.1360C>G
XM_011514661.1:c.1183C>G XP_011512963.1:p.Pro395Ala
XR_926246.1:n.1360C>G
XM_011514661.2:c.1183C>G XP_011512963.1:p.Pro395Ala
XR_001743466.2:n.2341C>G
NM_000287.4:c.1267C>G MANE Select NP_000278.3:p.Pro423Ala
NM_001316313.2:c.1003C>G NP_001303242.1:p.Pro335Ala
NR_133009.2:n.1298C>G
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