Canonical Allele Identifier: CA364155946

Gene: PEX6

Linked Data

• ClinVar Variation Id: 556748
• ClinVar RCV Id: RCV000672797 ; RCV001268931
• dbSNP Id: rs1554127531
• gnomAD v4: 6-42969797-C-A
• MyVariant Identifiers: chr6:g.42937535C>A (hg19) ; chr6:g.42969797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969797C>A , CM000668.2:g.42969797C>A	GRCh38
NC_000006.11:g.42937535C>A , CM000668.1:g.42937535C>A	GRCh37
NC_000006.10:g.43045513C>A	NCBI36
NG_008370.1:g.14447G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1238G>T MANE Select	ENSP00000303511.8:p.Gly413Val
ENST00000244546.4:c.1238G>T	ENSP00000244546.4:p.Gly413Val
ENST00000304611.12:c.1238G>T	ENSP00000303511.8:p.Gly413Val
NM_000287.3:c.1238G>T	NP_000278.3:p.Gly413Val
NM_001316313.1:c.974G>T	NP_001303242.1:p.Gly325Val
NR_133009.1:n.1331G>T
XM_011514661.1:c.1154G>T	XP_011512963.1:p.Gly385Val
XR_926246.1:n.1331G>T
XM_011514661.2:c.1154G>T	XP_011512963.1:p.Gly385Val
XR_001743466.2:n.2312G>T
NM_000287.4:c.1238G>T MANE Select	NP_000278.3:p.Gly413Val
NM_001316313.2:c.974G>T	NP_001303242.1:p.Gly325Val
NR_133009.2:n.1269G>T