Canonical Allele Identifier: CA3811389

Gene: PEX6

Linked Data

• ClinVar Variation Id: 2784738
• ClinVar RCV Id: RCV003646035
• dbSNP Id: rs764457083
• ExAC: 6:42937553 T / C
• gnomAD v2: 6-42937553-T-C
• gnomAD v4: 6-42969815-T-C
• MyVariant Identifiers: chr6:g.42937553T>C (hg19) ; chr6:g.42969815T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42969815T>C , CM000668.2:g.42969815T>C	GRCh38
NC_000006.11:g.42937553T>C , CM000668.1:g.42937553T>C	GRCh37
NC_000006.10:g.43045531T>C	NCBI36
NG_008370.1:g.14429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.1234-14A>G MANE Select	ENSP00000303511.8:n.1234-14A>G
ENST00000244546.4:c.1234-14A>G	ENSP00000244546.4:n.1234-14A>G
ENST00000304611.12:c.1234-14A>G	ENSP00000303511.8:n.1234-14A>G
NM_000287.3:c.1234-14A>G	NP_000278.3:n.1234-14A>G
NM_001316313.1:c.970-14A>G	NP_001303242.1:n.970-14A>G
NR_133009.1:n.1327-14A>G
XM_011514661.1:c.1150-14A>G	XP_011512963.1:n.1150-14A>G
XR_926246.1:n.1327-14A>G
XM_011514661.2:c.1150-14A>G	XP_011512963.1:n.1150-14A>G
XR_001743466.2:n.2308-14A>G
NM_000287.4:c.1234-14A>G MANE Select	NP_000278.3:n.1234-14A>G
NM_001316313.2:c.970-14A>G	NP_001303242.1:n.970-14A>G
NR_133009.2:n.1265-14A>G