Canonical Allele Identifier: CA3811267

Gene: PEX6

Linked Data

• ClinVar Variation Id: 502786
• ClinVar RCV Id: RCV000592165 ; RCV001068866 ; RCV001163662 ; RCV001829689 ; RCV004553344
• dbSNP Id: rs138621982
• ExAC: 6:42936046 T / C
• gnomAD v2: 6-42936046-T-C
• gnomAD v3: 6-42968308-T-C
• gnomAD v4: 6-42968308-T-C
• MyVariant Identifiers: chr6:g.42936046T>C (hg19) ; chr6:g.42968308T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968308T>C , CM000668.2:g.42968308T>C	GRCh38
NC_000006.11:g.42936046T>C , CM000668.1:g.42936046T>C	GRCh37
NC_000006.10:g.43044024T>C	NCBI36
NG_008370.1:g.15936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1670A>G MANE Select	ENSP00000303511.8:p.Asn557Ser
ENST00000244546.4:c.1670A>G	ENSP00000244546.4:p.Asn557Ser
ENST00000304611.12:c.1670A>G	ENSP00000303511.8:p.Asn557Ser
NM_000287.3:c.1670A>G	NP_000278.3:p.Asn557Ser
NM_001316313.1:c.1406A>G	NP_001303242.1:p.Asn469Ser
NR_133009.1:n.1763A>G
XM_011514661.1:c.1586A>G	XP_011512963.1:p.Asn529Ser
XR_926246.1:n.1651A>G
XM_011514661.2:c.1586A>G	XP_011512963.1:p.Asn529Ser
XR_001743466.2:n.2632A>G
NM_000287.4:c.1670A>G MANE Select	NP_000278.3:p.Asn557Ser
NM_001316313.2:c.1406A>G	NP_001303242.1:p.Asn469Ser
NR_133009.2:n.1701A>G