Canonical Allele Identifier: CA3811367

Gene: PEX6

Linked Data

• dbSNP Id: rs546531638
• ExAC: 6:42937441 T / A
• gnomAD v2: 6-42937441-T-A
• gnomAD v3: 6-42969703-T-A
• gnomAD v4: 6-42969703-T-A
• MyVariant Identifiers: chr6:g.42937441T>A (hg19) ; chr6:g.42969703T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969703T>A , CM000668.2:g.42969703T>A	GRCh38
NC_000006.11:g.42937441T>A , CM000668.1:g.42937441T>A	GRCh37
NC_000006.10:g.43045419T>A	NCBI36
NG_008370.1:g.14541A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1332A>T MANE Select	ENSP00000303511.8:p.Glu444Asp
ENST00000244546.4:c.1332A>T	ENSP00000244546.4:p.Glu444Asp
ENST00000304611.12:c.1332A>T	ENSP00000303511.8:p.Glu444Asp
NM_000287.3:c.1332A>T	NP_000278.3:p.Glu444Asp
NM_001316313.1:c.1068A>T	NP_001303242.1:p.Glu356Asp
NR_133009.1:n.1425A>T
XM_011514661.1:c.1248A>T	XP_011512963.1:p.Glu416Asp
XR_926246.1:n.1425A>T
XM_011514661.2:c.1248A>T	XP_011512963.1:p.Glu416Asp
XR_001743466.2:n.2406A>T
NM_000287.4:c.1332A>T MANE Select	NP_000278.3:p.Glu444Asp
NM_001316313.2:c.1068A>T	NP_001303242.1:p.Glu356Asp
NR_133009.2:n.1363A>T