Canonical Allele Identifier: CA138227583

Gene: PEX6

Linked Data

• dbSNP Id: rs374051182
• gnomAD v3: 6-42969697-A-T
• gnomAD v4: 6-42969697-A-T
• MyVariant Identifiers: chr6:g.42937435A>T (hg19) ; chr6:g.42969697A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969697A>T , CM000668.2:g.42969697A>T	GRCh38
NC_000006.11:g.42937435A>T , CM000668.1:g.42937435A>T	GRCh37
NC_000006.10:g.43045413A>T	NCBI36
NG_008370.1:g.14547T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1338T>A MANE Select	ENSP00000303511.8:p.Cys446Ter
ENST00000244546.4:c.1338T>A	ENSP00000244546.4:p.Cys446Ter
ENST00000304611.12:c.1338T>A	ENSP00000303511.8:p.Cys446Ter
NM_000287.3:c.1338T>A	NP_000278.3:p.Cys446Ter
NM_001316313.1:c.1074T>A	NP_001303242.1:p.Cys358Ter
NR_133009.1:n.1431T>A
XM_011514661.1:c.1254T>A	XP_011512963.1:p.Cys418Ter
XR_926246.1:n.1431T>A
XM_011514661.2:c.1254T>A	XP_011512963.1:p.Cys418Ter
XR_001743466.2:n.2412T>A
NM_000287.4:c.1338T>A MANE Select	NP_000278.3:p.Cys446Ter
NM_001316313.2:c.1074T>A	NP_001303242.1:p.Cys358Ter
NR_133009.2:n.1369T>A