Canonical Allele Identifier: CA138227786

Gene: PEX6

Linked Data

• ClinVar Variation Id: 1420639
• ClinVar RCV Id: RCV001914425
• dbSNP Id: rs955591362
• gnomAD v2: 6-42937620-C-T
• gnomAD v3: 6-42969882-C-T
• gnomAD v4: 6-42969882-C-T
• MyVariant Identifiers: chr6:g.42937620C>T (hg19) ; chr6:g.42969882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969882C>T , CM000668.2:g.42969882C>T	GRCh38
NC_000006.11:g.42937620C>T , CM000668.1:g.42937620C>T	GRCh37
NC_000006.10:g.43045598C>T	NCBI36
NG_008370.1:g.14362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1233+3G>A MANE Select	ENSP00000303511.8:n.1233+3G>A
ENST00000244546.4:c.1233+3G>A	ENSP00000244546.4:n.1233+3G>A
ENST00000304611.12:c.1233+3G>A	ENSP00000303511.8:n.1233+3G>A
NM_000287.3:c.1233+3G>A	NP_000278.3:n.1233+3G>A
NM_001316313.1:c.969+3G>A	NP_001303242.1:n.969+3G>A
NR_133009.1:n.1326+3G>A
XM_011514661.1:c.1149+3G>A	XP_011512963.1:n.1149+3G>A
XR_926246.1:n.1326+3G>A
XM_011514661.2:c.1149+3G>A	XP_011512963.1:n.1149+3G>A
XR_001743466.2:n.2307+3G>A
NM_000287.4:c.1233+3G>A MANE Select	NP_000278.3:n.1233+3G>A
NM_001316313.2:c.969+3G>A	NP_001303242.1:n.969+3G>A
NR_133009.2:n.1264+3G>A