Canonical Allele Identifier: CA364150525

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1707639
• ClinVar RCV Id: RCV002286618
• MyVariant Identifiers: chr6:g.42932668C>A (hg19) ; chr6:g.42964930C>A (hg38)
• MutSpliceDB: CA364150525

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42964930C>A , CM000668.2:g.42964930C>A	GRCh38
NC_000006.11:g.42932668C>A , CM000668.1:g.42932668C>A	GRCh37
NC_000006.10:g.43040646C>A	NCBI36
NG_008370.1:g.19314G>T
NG_008396.1:g.9169C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2667-1G>T MANE Select	ENSP00000303511.8:n.2667-1G>T
ENST00000244546.4:c.2420-1G>T	ENSP00000244546.4:n.2420-1G>T
ENST00000304611.12:c.2667-1G>T	ENSP00000303511.8:n.2667-1G>T
NM_000287.3:c.2667-1G>T	NP_000278.3:n.2667-1G>T
NM_001316313.1:c.2403-1G>T	NP_001303242.1:n.2403-1G>T
NR_133009.1:n.2513-1G>T
XM_011514661.1:c.2583-1G>T	XP_011512963.1:n.2583-1G>T
XM_011514661.2:c.2583-1G>T	XP_011512963.1:n.2583-1G>T
XR_001743466.2:n.3629-1G>T
NM_000287.4:c.2667-1G>T MANE Select	NP_000278.3:n.2667-1G>T
NM_001316313.2:c.2403-1G>T	NP_001303242.1:n.2403-1G>T
NR_133009.2:n.2451-1G>T