Canonical Allele Identifier: CA138227726

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1094482
• ClinVar RCV Id: RCV001415029
• dbSNP Id: rs995542635
• gnomAD v3: 6-42969784-G-A
• gnomAD v4: 6-42969784-G-A
• MyVariant Identifiers: chr6:g.42937522G>A (hg19) ; chr6:g.42969784G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969784G>A , CM000668.2:g.42969784G>A	GRCh38
NC_000006.11:g.42937522G>A , CM000668.1:g.42937522G>A	GRCh37
NC_000006.10:g.43045500G>A	NCBI36
NG_008370.1:g.14460C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1251C>T MANE Select	ENSP00000303511.8:p.Ser417=
ENST00000244546.4:c.1251C>T	ENSP00000244546.4:p.Ser417=
ENST00000304611.12:c.1251C>T	ENSP00000303511.8:p.Ser417=
NM_000287.3:c.1251C>T	NP_000278.3:p.Ser417=
NM_001316313.1:c.987C>T	NP_001303242.1:p.Ser329=
NR_133009.1:n.1344C>T
XM_011514661.1:c.1167C>T	XP_011512963.1:p.Ser389=
XR_926246.1:n.1344C>T
XM_011514661.2:c.1167C>T	XP_011512963.1:p.Ser389=
XR_001743466.2:n.2325C>T
NM_000287.4:c.1251C>T MANE Select	NP_000278.3:p.Ser417=
NM_001316313.2:c.987C>T	NP_001303242.1:p.Ser329=
NR_133009.2:n.1282C>T