Canonical Allele Identifier: CA138237883

Gene: PEX6

Linked Data

• ClinVar Variation Id: 545099
• ClinVar RCV Id: RCV000656322 ; RCV000672728 ; RCV002534243 ; RCV003472050 ; RCV003488777
• dbSNP Id: rs267608203
• gnomAD v4: 6-42978492-C-A
• MyVariant Identifiers: chr6:g.42946230C>A (hg19) ; chr6:g.42978492C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978492C>A , CM000668.2:g.42978492C>A	GRCh38
NC_000006.11:g.42946230C>A , CM000668.1:g.42946230C>A	GRCh37
NC_000006.10:g.43054208C>A	NCBI36
NG_008370.1:g.5752G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.659G>T MANE Select	ENSP00000303511.8:p.Gly220Val
ENST00000244546.4:c.659G>T	ENSP00000244546.4:p.Gly220Val
ENST00000304611.12:c.659G>T	ENSP00000303511.8:p.Gly220Val
NM_000287.3:c.659G>T	NP_000278.3:p.Gly220Val
NM_001316313.1:c.618+41G>T	NP_001303242.1:n.618+41G>T
NR_133009.1:n.752G>T
XM_011514661.1:c.659G>T	XP_011512963.1:p.Gly220Val
XR_926246.1:n.752G>T
XM_011514661.2:c.659G>T	XP_011512963.1:p.Gly220Val
XR_001743466.2:n.1733G>T
NM_000287.4:c.659G>T MANE Select	NP_000278.3:p.Gly220Val
NM_001316313.2:c.618+41G>T	NP_001303242.1:n.618+41G>T
NR_133009.2:n.690G>T