Canonical Allele Identifier: CA138227640

Gene: PEX6

Linked Data

• ClinVar Variation Id: 579632
• ClinVar RCV Id: RCV000702969 ; RCV000728099 ; RCV001830552 ; RCV003472243
• dbSNP Id: rs771063294
• gnomAD v2: 6-42937463-C-T
• gnomAD v4: 6-42969725-C-T
• MyVariant Identifiers: chr6:g.42937463C>T (hg19) ; chr6:g.42969725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969725C>T , CM000668.2:g.42969725C>T	GRCh38
NC_000006.11:g.42937463C>T , CM000668.1:g.42937463C>T	GRCh37
NC_000006.10:g.43045441C>T	NCBI36
NG_008370.1:g.14519G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1310G>A MANE Select	ENSP00000303511.8:p.Gly437Asp
ENST00000244546.4:c.1310G>A	ENSP00000244546.4:p.Gly437Asp
ENST00000304611.12:c.1310G>A	ENSP00000303511.8:p.Gly437Asp
NM_000287.3:c.1310G>A	NP_000278.3:p.Gly437Asp
NM_001316313.1:c.1046G>A	NP_001303242.1:p.Gly349Asp
NR_133009.1:n.1403G>A
XM_011514661.1:c.1226G>A	XP_011512963.1:p.Gly409Asp
XR_926246.1:n.1403G>A
XM_011514661.2:c.1226G>A	XP_011512963.1:p.Gly409Asp
XR_001743466.2:n.2384G>A
NM_000287.4:c.1310G>A MANE Select	NP_000278.3:p.Gly437Asp
NM_001316313.2:c.1046G>A	NP_001303242.1:p.Gly349Asp
NR_133009.2:n.1341G>A