Canonical Allele Identifier: CA450366101

Gene: PEX6

Linked Data

• dbSNP Id: rs1260688458
• gnomAD v2: 6-42937507-G-C
• gnomAD v4: 6-42969769-G-C
• MyVariant Identifiers: chr6:g.42937507G>C (hg19) ; chr6:g.42969769G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969769G>C , CM000668.2:g.42969769G>C	GRCh38
NC_000006.11:g.42937507G>C , CM000668.1:g.42937507G>C	GRCh37
NC_000006.10:g.43045485G>C	NCBI36
NG_008370.1:g.14475C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1266C>G MANE Select	ENSP00000303511.8:p.Leu422=
ENST00000244546.4:c.1266C>G	ENSP00000244546.4:p.Leu422=
ENST00000304611.12:c.1266C>G	ENSP00000303511.8:p.Leu422=
NM_000287.3:c.1266C>G	NP_000278.3:p.Leu422=
NM_001316313.1:c.1002C>G	NP_001303242.1:p.Leu334=
NR_133009.1:n.1359C>G
XM_011514661.1:c.1182C>G	XP_011512963.1:p.Leu394=
XR_926246.1:n.1359C>G
XM_011514661.2:c.1182C>G	XP_011512963.1:p.Leu394=
XR_001743466.2:n.2340C>G
NM_000287.4:c.1266C>G MANE Select	NP_000278.3:p.Leu422=
NM_001316313.2:c.1002C>G	NP_001303242.1:p.Leu334=
NR_133009.2:n.1297C>G