Canonical Allele Identifier: CA10606756

Gene: PEX6

Linked Data

• ClinVar Variation Id: 290377
• ClinVar RCV Id: RCV000341180 ; RCV002518133 ; RCV003475922
• dbSNP Id: rs886044436
• MyVariant Identifiers: chr6:g.42937654A>T (hg19) ; chr6:g.42969916A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969916A>T , CM000668.2:g.42969916A>T	GRCh38
NC_000006.11:g.42937654A>T , CM000668.1:g.42937654A>T	GRCh37
NC_000006.10:g.43045632A>T	NCBI36
NG_008370.1:g.14328T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1202T>A MANE Select	ENSP00000303511.8:p.Leu401Ter
ENST00000244546.4:c.1202T>A	ENSP00000244546.4:p.Leu401Ter
ENST00000304611.12:c.1202T>A	ENSP00000303511.8:p.Leu401Ter
NM_000287.3:c.1202T>A	NP_000278.3:p.Leu401Ter
NM_001316313.1:c.938T>A	NP_001303242.1:p.Leu313Ter
NR_133009.1:n.1295T>A
XM_011514661.1:c.1118T>A	XP_011512963.1:p.Leu373Ter
XR_926246.1:n.1295T>A
XM_011514661.2:c.1118T>A	XP_011512963.1:p.Leu373Ter
XR_001743466.2:n.2276T>A
NM_000287.4:c.1202T>A MANE Select	NP_000278.3:p.Leu401Ter
NM_001316313.2:c.938T>A	NP_001303242.1:p.Leu313Ter
NR_133009.2:n.1233T>A