Canonical Allele Identifier: CA824875822

Gene: PEX6

Linked Data

• dbSNP Id: rs1291625626
• MyVariant Identifiers: chr6:g.42937355G>C (hg19) ; chr6:g.42969617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969617G>C , CM000668.2:g.42969617G>C	GRCh38
NC_000006.11:g.42937355G>C , CM000668.1:g.42937355G>C	GRCh37
NC_000006.10:g.43045333G>C	NCBI36
NG_008370.1:g.14627C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1367+51C>G MANE Select	ENSP00000303511.8:n.1367+51C>G
ENST00000244546.4:c.1367+51C>G	ENSP00000244546.4:n.1367+51C>G
ENST00000304611.12:c.1367+51C>G	ENSP00000303511.8:n.1367+51C>G
NM_000287.3:c.1367+51C>G	NP_000278.3:n.1367+51C>G
NM_001316313.1:c.1103+51C>G	NP_001303242.1:n.1103+51C>G
NR_133009.1:n.1460+51C>G
XM_011514661.1:c.1283+51C>G	XP_011512963.1:n.1283+51C>G
XR_926246.1:n.1460+51C>G
XM_011514661.2:c.1283+51C>G	XP_011512963.1:n.1283+51C>G
XR_001743466.2:n.2441+51C>G
NM_000287.4:c.1367+51C>G MANE Select	NP_000278.3:n.1367+51C>G
NM_001316313.2:c.1103+51C>G	NP_001303242.1:n.1103+51C>G
NR_133009.2:n.1398+51C>G