Canonical Allele Identifier: CA450365974

Gene: PEX6

Linked Data

• gnomAD v4: 6-42969712-C-T
• MyVariant Identifiers: chr6:g.42937450C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969712C>T , CM000668.2:g.42969712C>T	GRCh38
NC_000006.11:g.42937450C>T , CM000668.1:g.42937450C>T	GRCh37
NC_000006.10:g.43045428C>T	NCBI36
NG_008370.1:g.14532G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1323G>A MANE Select	ENSP00000303511.8:p.Leu441=
ENST00000244546.4:c.1323G>A	ENSP00000244546.4:p.Leu441=
ENST00000304611.12:c.1323G>A	ENSP00000303511.8:p.Leu441=
NM_000287.3:c.1323G>A	NP_000278.3:p.Leu441=
NM_001316313.1:c.1059G>A	NP_001303242.1:p.Leu353=
NR_133009.1:n.1416G>A
XM_011514661.1:c.1239G>A	XP_011512963.1:p.Leu413=
XR_926246.1:n.1416G>A
XM_011514661.2:c.1239G>A	XP_011512963.1:p.Leu413=
XR_001743466.2:n.2397G>A
NM_000287.4:c.1323G>A MANE Select	NP_000278.3:p.Leu441=
NM_001316313.2:c.1059G>A	NP_001303242.1:p.Leu353=
NR_133009.2:n.1354G>A