Canonical Allele Identifier: CA450366076

Gene: PEX6

Linked Data

• MyVariant Identifiers: chr6:g.42937492G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969754G>T , CM000668.2:g.42969754G>T	GRCh38
NC_000006.11:g.42937492G>T , CM000668.1:g.42937492G>T	GRCh37
NC_000006.10:g.43045470G>T	NCBI36
NG_008370.1:g.14490C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1281C>A MANE Select	ENSP00000303511.8:p.Ser427=
ENST00000244546.4:c.1281C>A	ENSP00000244546.4:p.Ser427=
ENST00000304611.12:c.1281C>A	ENSP00000303511.8:p.Ser427=
NM_000287.3:c.1281C>A	NP_000278.3:p.Ser427=
NM_001316313.1:c.1017C>A	NP_001303242.1:p.Ser339=
NR_133009.1:n.1374C>A
XM_011514661.1:c.1197C>A	XP_011512963.1:p.Ser399=
XR_926246.1:n.1374C>A
XM_011514661.2:c.1197C>A	XP_011512963.1:p.Ser399=
XR_001743466.2:n.2355C>A
NM_000287.4:c.1281C>A MANE Select	NP_000278.3:p.Ser427=
NM_001316313.2:c.1017C>A	NP_001303242.1:p.Ser339=
NR_133009.2:n.1312C>A