Canonical Allele Identifier: CA236258

Gene: PEX6

Linked Data

• ClinVar Variation Id: 191209
• ClinVar RCV Id: RCV000171396 ; RCV003474921
• dbSNP Id: rs786205580
• gnomAD v4: 6-42978490-C-A
• MyVariant Identifiers: chr6:g.42946228C>A (hg19) ; chr6:g.42978490C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42978490C>A , CM000668.2:g.42978490C>A	GRCh38
NC_000006.11:g.42946228C>A , CM000668.1:g.42946228C>A	GRCh37
NC_000006.10:g.43054206C>A	NCBI36
NG_008370.1:g.5754G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.661G>T MANE Select	ENSP00000303511.8:p.Glu221Ter
ENST00000244546.4:c.661G>T	ENSP00000244546.4:p.Glu221Ter
ENST00000304611.12:c.661G>T	ENSP00000303511.8:p.Glu221Ter
NM_000287.3:c.661G>T	NP_000278.3:p.Glu221Ter
NM_001316313.1:c.618+43G>T	NP_001303242.1:n.618+43G>T
NR_133009.1:n.754G>T
XM_011514661.1:c.661G>T	XP_011512963.1:p.Glu221Ter
XR_926246.1:n.754G>T
XM_011514661.2:c.661G>T	XP_011512963.1:p.Glu221Ter
XR_001743466.2:n.1735G>T
NM_000287.4:c.661G>T MANE Select	NP_000278.3:p.Glu221Ter
NM_001316313.2:c.618+43G>T	NP_001303242.1:n.618+43G>T
NR_133009.2:n.692G>T