Canonical Allele Identifier: CA10605438

Gene: PEX6

Linked Data

• ClinVar Variation Id: 286354
• ClinVar RCV Id: RCV000327168 ; RCV002519229
• dbSNP Id: rs886043369
• gnomAD v4: 6-42965122-A-G
• MyVariant Identifiers: chr6:g.42932860A>G (hg19) ; chr6:g.42965122A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42965122A>G , CM000668.2:g.42965122A>G	GRCh38
NC_000006.11:g.42932860A>G , CM000668.1:g.42932860A>G	GRCh37
NC_000006.10:g.43040838A>G	NCBI36
NG_008370.1:g.19122T>C
NG_008396.1:g.9361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304611.13:c.2619T>C MANE Select	ENSP00000303511.8:p.Asn873=
ENST00000244546.4:c.2372T>C	ENSP00000244546.4:n.2372T>C
ENST00000304611.12:c.2619T>C	ENSP00000303511.8:p.Asn873=
NM_000287.3:c.2619T>C	NP_000278.3:p.Asn873=
NM_001316313.1:c.2355T>C	NP_001303242.1:p.Asn785=
NR_133009.1:n.2465T>C
XM_011514661.1:c.2535T>C	XP_011512963.1:p.Asn845=
XM_011514661.2:c.2535T>C	XP_011512963.1:p.Asn845=
XR_001743466.2:n.3581T>C
NM_000287.4:c.2619T>C MANE Select	NP_000278.3:p.Asn873=
NM_001316313.2:c.2355T>C	NP_001303242.1:p.Asn785=
NR_133009.2:n.2403T>C