Canonical Allele Identifier: CA3811255

Gene: PEX6

Linked Data

• dbSNP Id: rs777958710
• ExAC: 6:42935986 C / G
• COSMIC: COSN9783630 ; COSN15431555
• MyVariant Identifiers: chr6:g.42935986C>G (hg19) ; chr6:g.42968248C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42968248C>G , CM000668.2:g.42968248C>G	GRCh38
NC_000006.11:g.42935986C>G , CM000668.1:g.42935986C>G	GRCh37
NC_000006.10:g.43043964C>G	NCBI36
NG_008370.1:g.15996G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000304611.13:c.1688+42G>C MANE Select	ENSP00000303511.8:n.1688+42G>C
ENST00000244546.4:c.1688+42G>C	ENSP00000244546.4:n.1688+42G>C
ENST00000304611.12:c.1688+42G>C	ENSP00000303511.8:n.1688+42G>C
NM_000287.3:c.1688+42G>C	NP_000278.3:n.1688+42G>C
NM_001316313.1:c.1424+42G>C	NP_001303242.1:n.1424+42G>C
NR_133009.1:n.1781+42G>C
XM_011514661.1:c.1604+42G>C	XP_011512963.1:n.1604+42G>C
XR_926246.1:n.1669+42G>C
XM_011514661.2:c.1604+42G>C	XP_011512963.1:n.1604+42G>C
XR_001743466.2:n.2650+42G>C
NM_000287.4:c.1688+42G>C MANE Select	NP_000278.3:n.1688+42G>C
NM_001316313.2:c.1424+42G>C	NP_001303242.1:n.1424+42G>C
NR_133009.2:n.1719+42G>C