Canonical Allele Identifier: CA567150110

Gene: PEX6

Linked Data

• dbSNP Id: rs753033798
• gnomAD v2: 6-42935983-C-G
• gnomAD v3: 6-42968245-C-G
• gnomAD v4: 6-42968245-C-G
• MyVariant Identifiers: chr6:g.42935983C>G (hg19) ; chr6:g.42968245C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968245C>G , CM000668.2:g.42968245C>G	GRCh38
NC_000006.11:g.42935983C>G , CM000668.1:g.42935983C>G	GRCh37
NC_000006.10:g.43043961C>G	NCBI36
NG_008370.1:g.15999G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1688+45G>C MANE Select	ENSP00000303511.8:n.1688+45G>C
ENST00000244546.4:c.1688+45G>C	ENSP00000244546.4:n.1688+45G>C
ENST00000304611.12:c.1688+45G>C	ENSP00000303511.8:n.1688+45G>C
NM_000287.3:c.1688+45G>C	NP_000278.3:n.1688+45G>C
NM_001316313.1:c.1424+45G>C	NP_001303242.1:n.1424+45G>C
NR_133009.1:n.1781+45G>C
XM_011514661.1:c.1604+45G>C	XP_011512963.1:n.1604+45G>C
XR_926246.1:n.1669+45G>C
XM_011514661.2:c.1604+45G>C	XP_011512963.1:n.1604+45G>C
XR_001743466.2:n.2650+45G>C
NM_000287.4:c.1688+45G>C MANE Select	NP_000278.3:n.1688+45G>C
NM_001316313.2:c.1424+45G>C	NP_001303242.1:n.1424+45G>C
NR_133009.2:n.1719+45G>C