Canonical Allele Identifier: CA138227708

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2970897
• ClinVar RCV Id: RCV003824599
• dbSNP Id: rs897158533
• MyVariant Identifiers: chr6:g.42937510C>T (hg19) ; chr6:g.42969772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969772C>T , CM000668.2:g.42969772C>T	GRCh38
NC_000006.11:g.42937510C>T , CM000668.1:g.42937510C>T	GRCh37
NC_000006.10:g.43045488C>T	NCBI36
NG_008370.1:g.14472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1263G>A MANE Select	ENSP00000303511.8:p.Trp421Ter
ENST00000244546.4:c.1263G>A	ENSP00000244546.4:p.Trp421Ter
ENST00000304611.12:c.1263G>A	ENSP00000303511.8:p.Trp421Ter
NM_000287.3:c.1263G>A	NP_000278.3:p.Trp421Ter
NM_001316313.1:c.999G>A	NP_001303242.1:p.Trp333Ter
NR_133009.1:n.1356G>A
XM_011514661.1:c.1179G>A	XP_011512963.1:p.Trp393Ter
XR_926246.1:n.1356G>A
XM_011514661.2:c.1179G>A	XP_011512963.1:p.Trp393Ter
XR_001743466.2:n.2337G>A
NM_000287.4:c.1263G>A MANE Select	NP_000278.3:p.Trp421Ter
NM_001316313.2:c.999G>A	NP_001303242.1:p.Trp333Ter
NR_133009.2:n.1294G>A